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
CST9L_chr20_23559732_23573484	23561012	CTTCCTTC others(77): Show CTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCT TCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	392	0.0026	-84	c.38 others(95): Show c.3852_*3935delAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAG AAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAA		CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding					3719		chr20	TogoVar
CTDP1_chr18_79674803_79759503	79732409	CTCAGGAG others(77): Show CTCAGGAGTGCTCCCAAAATCACGTGAGACATGAGAACTCACATCAGGAG TGCTCCCAAAATCACGTGAGACATGAGAACTCACA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01257.hp1 HG02071.hp1 others(3): Show HG01167.hp2 HG01257.hp1 HG02071.hp1 HG02818.hp2 HG03225.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0006 a0001c0001t0017 a0001c0007t0003 others(1): Show a0001c0001t0006 a0001c0001t0017 a0001c0007t0003 a0002c0002t0001	a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089 others(3): Show a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0001t0017g0207 a0001c0007t0003g0365 a0002c0002t0001g0267	6	378	0.0159	-84	c.258 others(103): Show c.2580+3463_2580+3546delCACATCAGGAGTGCTCCCAAAATCAC GTGAGACATGAGAACTCACATCAGGAGTGCTCCCAAAATCACGTGAGACA TGAGAACT		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745259	CCCTGCGT others(77): Show CCCTGCGTCCCTCCCGTGCGCGTTCTGTCCCTGCGTCCCTCCCGTGCGCG TTCTGTCCCTGCGTCCCTCCCGTGCGCGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01069.hp2 others(3): Show HG00140.hp2 HG00741.hp2 HG01069.hp2 HG02698.hp2 HG03225.hp2 NA18945.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0028 a0002c0002 a0005c0028	a0002c0002t0001 a0005c0028t0001 a0002c0002t0001 a0005c0028t0001	a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 others(3): Show a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0251 a0005c0028t0001g0371	6	378	0.0159	-84	c.274 others(103): Show c.2748-8390_2748-8307delTGCGTCCCTCCCGTGCGCGTTCTGTC CCTGCGTCCCTCCCGTGCGCGTTCTGTCCCTGCGTCCCTCCCGTGCGCGT TCTGTGCC		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745287	CCCTGCGT others(77): Show CCCTGCGTCCCTCCCGTGCGCGTTCTGTCCCTGCGTCCCTCCCGTGCGCG TTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00609.hp1 others(21): Show HG00423.hp2 HG00597.hp2 HG00609.hp1 HG01070.hp1 HG01071.hp1 HG01255.hp1 HG01257.hp1 HG01943.hp2 HG02083.hp2 HG02300.hp2 HG02523.hp1 HG02965.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp2 NA18945.hp2 NA18952.hp2 NA18954.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19070.hp1 NA19079.hp1 NA19089.hp2	a0001 a0004 a0009 others(2): Show a0001 a0004 a0009 a0019 a0024	a0001c0001 a0001c0007 a0004c0004 others(3): Show a0001c0001 a0001c0007 a0004c0004 a0009c0024 a0019c0035 a0024c0022	a0001c0001t0004 a0001c0007t0003 a0001c0007t0012 others(4): Show a0001c0001t0004 a0001c0007t0003 a0001c0007t0012 a0004c0004t0003 a0009c0024t0003 a0019c0035t0004 a0024c0022t0003	a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0150 others(20): Show a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0150 a0001c0001t0004g0164 a0001c0007t0003g0004 a0001c0007t0003g0346 a0001c0007t0003g0350 a0001c0007t0003g0351 a0001c0007t0003g0354 a0001c0007t0003g0355 a0001c0007t0003g0356 a0001c0007t0003g0357 a0001c0007t0003g0358 a0001c0007t0003g0360 a0001c0007t0003g0362 a0001c0007t0003g0364 a0001c0007t0003g0365 a0001c0007t0012g0353 a0004c0004t0003g0313 a0004c0004t0003g0316 a0009c0024t0003g0361 a0019c0035t0004g0196 a0024c0022t0003g0359	24	378	0.0635	-84	c.274 others(103): Show c.2748-8362_2748-8279delTGCGTCCCTCCCGTGCGCGTTCTGTC CCTGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGT TCTGTGCC		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745875	CCCCGCGT others(77): Show CCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0014 a0014	a0014c0036 a0014c0036	a0014c0036t0001 a0014c0036t0001	a0014c0036t0001g0083 a0014c0036t0001g0083	1	378	0.0027	-84	c.274 others(103): Show c.2748-7749_2748-7666delCCCCGCGTCCCTCCCGTGCGCGTTCT GTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCG CGTTCTGT		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79746238	ACCCCGCG others(77): Show ACCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGC GTTCTGTCCCTGCGTCCCTCCCGTGCGCGTTCTGT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0199 a0001c0008t0001g0199	1	378	0.0027	-84	c.274 others(103): Show c.2748-7386_2748-7303delTGCCCGCGTCCCTCCCGTGCGCGTTC TGTCCCTGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGC GCGTTCTG		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79752220	GTAAGGAA others(77): Show GTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAA AGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCC	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0036 a0001c0003t0001g0036	1	378	0.0027	-84	c.274 others(103): Show c.2748-1368_2748-1285delGGCTGGTTATGCAGAGGCTCCTAAGG AAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAAAGCCTA GTGGCACC		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79752556	CTAAGGAA others(77): Show CTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCGTAAGGAA AGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCG	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0322 a0004c0004t0001g0322	1	378	0.0027	-84	c.274 others(102): Show c.2748-1012_2748-929delGTAAGGAAAGCCTAGTGGCACCGGCTG GTTATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCA GAGGCTC		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTSS_chr1_150725188_150770778	150744057	TACATAAT others(77): Show TACATAATATTTATATATTATATGTATATTATGTATACATAATATATTAT ATATTATATGTATATTATGTATACATAATATGTAC	T T	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	344	0.0029	-84	c.896 others(101): Show c.896+3636_896+3719delGTACATATTATGTATACATAATATACAT ATAATATATAATATATTATGTATACATAATATACATATAATATATAAATA TTATGT		CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7						chr1	TogoVar
CUX1_chr7_101811007_102288958	102102813	CCACAAAG others(77): Show CCACAAAGCATCCAGCATGCGGAGTGGCATAGGCGTATCTGGAGGAGGGC GCACGTGGAGTTGTCCTGCCCCAGAGCCACCCACA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	132	0.0076	-84	c.440 others(101): Show c.440-1470_440-1387delCGTGGAGTTGTCCTGCCCCAGAGCCACC CACACACAAAGCATCCAGCATGCGGAGTGGCATAGGCGTATCTGGAGGAG GGCGCA		CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	5/22					INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	102102813	CCACAAAG others(77): Show CCACAAAGCATCCAGCATGCGGAGTGGCATAGGCGTATCTGGAGGAGGGC GCACGTGGAGTTGTCCTGCCCCAGAGCCACCCACA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0085 a0001c0001t0010g0085	1	136	0.0074	-84	c.407 others(101): Show c.407-1470_407-1387delCGTGGAGTTGTCCTGCCCCAGAGCCACC CACACACAAAGCATCCAGCATGCGGAGTGGCATAGGCGTATCTGGAGGAG GGCGCA		CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	5/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX2_chr12_111029165_111355554	111296648	ACCTCCTC others(77): Show ACCTCCTCCCTCTGACCCTCCAGTACTTGCCTCCACCCTCTGGCCATCCC AGACACGCCTCCACCCTCTGGCCCTCCCAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01169.hp1 HG01884.hp2 others(33): Show HG00597.hp2 HG01169.hp1 HG01884.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA19030.hp1 NA19043.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0003 a0001c0010 others(5): Show a0001c0001 a0001c0003 a0001c0010 a0001c0015 a0001c0018 a0002c0006 a0004c0017 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0010t0001 a0001c0015t0001 a0001c0018t0001 a0002c0006t0001 a0004c0017t0001 a0006c0011t0009	a0001c0001t0001g0013 a0001c0001t0002g0012 a0001c0001t0002g0016 others(33): Show a0001c0001t0001g0013 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0030 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0003g0045 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0099 a0001c0001t0004g0054 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0014 a0001c0003t0001g0017 a0001c0003t0001g0033 a0001c0003t0001g0040 a0001c0003t0001g0046 a0001c0003t0001g0057 a0001c0003t0001g0088 a0001c0003t0001g0094 a0001c0010t0001g0001 a0001c0015t0001g0021 a0001c0018t0001g0065 a0002c0006t0001g0053 a0002c0006t0001g0084 a0002c0006t0001g0089 a0004c0017t0001g0098 a0006c0011t0009g0044	36	100	0.3600	-84	c.704 others(99): Show c.704+284_704+367delCCCTCTGACCCTCCAGTACTTGCCTCCACC CTCTGGCCATCCCAGACACGCCTCCACCCTCTGGCCCTCCCAGAGAGGCC TCCT		CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	8/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
CYP2W1_chr7_978181_994640	990201	GACAGTGG others(77): Show GACAGTGGCGCGTGTGCTGGGGGTGGTGTGGTCGGCAGTGTGACAGTGGC GCGTGTGCTGGGGGCGGTGTGGTCGGCAGTGTGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02451.hp2 others(13): Show HG01884.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 NA19240.hp2 NA20300.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0002 a0004c0006 a0004c0023 others(1): Show a0001c0002 a0004c0006 a0004c0023 a0008c0011	a0001c0002t0001 a0004c0006t0001 a0004c0023t0001 others(1): Show a0001c0002t0001 a0004c0006t0001 a0004c0023t0001 a0008c0011t0001	a0001c0002t0001g0007 a0004c0006t0001g0006 a0004c0006t0001g0056 others(2): Show a0001c0002t0001g0007 a0004c0006t0001g0006 a0004c0006t0001g0056 a0004c0023t0001g0062 a0008c0011t0001g0006	16	408	0.0392	-84	c.13 others(95): Show c.1380_*1463delACAGTGGCGCGTGTGCTGGGGGTGGTGTGGTCGG CAGTGTGACAGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCAGTGTGAC		CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding					562		chr7	TogoVar
DCC_chr18_52335197_53540899	53206306	CATATATA others(77): Show CATATATACATATATGTATTGTAACACATATATGTATATATGTATATATA CATATATGTATTGTAACACATATATGTATATATGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00733.hp1 others(18): Show HG00099.hp2 HG00280.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01993.hp2 HG02970.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03579.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0002 a0001c0003 a0001c0005 others(7): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0002c0004 a0002c0011 a0002c0018 a0005c0016 a0009c0019	a0001c0002t0006 a0001c0003t0003 a0001c0003t0013 others(14): Show a0001c0002t0006 a0001c0003t0003 a0001c0003t0013 a0001c0003t0016 a0001c0003t0028 a0001c0005t0019 a0001c0007t0003 a0001c0008t0023 a0001c0008t0025 a0001c0008t0026 a0002c0004t0003 a0002c0004t0013 a0002c0004t0014 a0002c0011t0003 a0002c0018t0004 a0005c0016t0021 a0009c0019t0005	a0001c0002t0006g0006 a0001c0002t0006g0021 a0001c0003t0003g0041 others(18): Show a0001c0002t0006g0006 a0001c0002t0006g0021 a0001c0003t0003g0041 a0001c0003t0013g0075 a0001c0003t0016g0007 a0001c0003t0028g0076 a0001c0005t0019g0105 a0001c0007t0003g0025 a0001c0007t0003g0026 a0001c0007t0003g0035 a0001c0007t0003g0099 a0001c0008t0023g0098 a0001c0008t0025g0086 a0001c0008t0026g0095 a0002c0004t0003g0083 a0002c0004t0013g0042 a0002c0004t0014g0043 a0002c0011t0003g0090 a0002c0018t0004g0071 a0005c0016t0021g0033 a0009c0019t0005g0014	21	114	0.1842	-84	c.172 others(103): Show c.1722+1001_1722+1084delATTGTAACACATATATGTATATATGT ATATATACATATATGTATTGTAACACATATATGTATATATGTATATATAC ATATATGT		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	10/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DECR2_chr16_396885_417482	408027	GCCCCTGT others(77): Show GCCCCTGTCTCCGGGCCTCTGTCTCCGGCCCTCTGTCTCCGGGCCCCTGT CTCCGGGCCCCTGTCTCCAGCCCCCTGTCTCCGGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03579.hp1 HG02486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0001t0007g0104 a0001c0001t0007g0105	2	367	0.0055	-84	c.337 others(99): Show c.337+470_337+553delCCTGTCTCCGGGCCTCTGTCTCCGGCCCTC TGTCTCCGGGCCCCTGTCTCCGGGCCCCTGTCTCCAGCCCCCTGTCTCCG GACC		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
DECR2_chr16_396885_417482	408030	CCTGTCTC others(77): Show CCTGTCTCCGGGCCTCTGTCTCCGGCCCTCTGTCTCCGGGCCCCTGTCTC CGGGCCCCTGTCTCCAGCCCCCTGTCTCCGGACCT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	367	0.0027	-84	c.337 others(99): Show c.337+484_337+567delTCTGTCTCCGGCCCTCTGTCTCCGGGCCCC TGTCTCCGGGCCCCTGTCTCCAGCCCCCTGTCTCCGGACCTCTGTCTCCG GGCC		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
DEPDC5_chr22_31749019_31913033	31904080	AGCTCCTC others(77): Show AGCTCCTCCTTCATCTTCCTCAGCCCCTAGGCTGTGACCTACAGCTCCTC CTTCATCTTCCTCAGCCCCTAGGCTGTGACCTACC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02896.hp1 others(3): Show HG02055.hp1 HG02145.hp2 HG02896.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0115 a0001c0001t0008g0119 a0001c0001t0008g0143 others(3): Show a0001c0001t0008g0115 a0001c0001t0008g0119 a0001c0001t0008g0143 a0001c0001t0008g0163 a0001c0001t0008g0164 a0001c0001t0008g0165	6	204	0.0294	-84	c.443 others(103): Show c.4437-1842_4437-1759delCAGCCCCTAGGCTGTGACCTACCGCT CCTCCTTCATCTTCCTCAGCCCCTAGGCTGTGACCTACAGCTCCTCCTTC ATCTTCCT		DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42					INFO_REALIGN_3_PRIME	chr22	TogoVar
DGKB_chr7_14140049_14907751	14212280	TTTTACTC others(77): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATATTTACTCTCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0011 a0001c0003t0008g0011	1	148	0.0068	-84	c.212 others(105): Show c.2123-34213_2123-34130delTCACAAAACATGAGAGTAAATATC ACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAAATCACAAAACA TGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKH_chr13_42043648_42247896	42181816	CTGCTGGC others(77): Show CTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGC AGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG01243.hp1 others(13): Show HG00423.hp2 HG00558.hp1 HG01243.hp1 HG01975.hp2 HG02056.hp1 HG02622.hp1 HG02896.hp1 HG03834.hp2 HG04228.hp2 NA18747.hp1 NA18954.hp1 NA18961.hp1 NA18994.hp1 NA19007.hp2 NA19063.hp1 NA20905.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0002 a0001c0004 a0002c0005 others(2): Show a0001c0002 a0001c0004 a0002c0005 a0005c0012 a0006c0018	a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0002t0092 a0001c0002t0094 a0001c0002t0095 a0001c0004t0028 a0002c0005t0001 a0002c0005t0007 a0005c0012t0077 a0006c0018t0041	a0001c0002t0001g0044 a0001c0002t0001g0089 a0001c0002t0002g0019 others(13): Show a0001c0002t0001g0044 a0001c0002t0001g0089 a0001c0002t0002g0019 a0001c0002t0012g0073 a0001c0002t0092g0032 a0001c0002t0094g0103 a0001c0002t0095g0060 a0001c0004t0028g0287 a0002c0005t0001g0271 a0002c0005t0007g0099 a0002c0005t0007g0123 a0002c0005t0007g0134 a0002c0005t0007g0136 a0002c0005t0007g0258 a0005c0012t0077g0092 a0006c0018t0041g0122	16	316	0.0506	-84	c.153 others(103): Show c.1538+3814_1538+3897delAGCTGAGCTGCTGGTGCTGGCAGCTG AGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTG GTGCTGGC		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	13/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
DHRS11_chr17_36586879_36605804	36601383	CTTAAAGG others(77): Show CTTAAAGGGCCCTTCACTGGTGCGTGGGTGAATGCGGTCCCCGGCCTCCT GGGACCTCGAGGAACACAGGACGCAGCCGGTAGTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03471.hp1 HG03579.hp1 others(3): Show HG03225.hp2 HG03471.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0014 a0001c0006t0001g0014 a0001c0001t0001g0014 a0001c0006t0001g0014	6	385	0.0156	-84	c.11 others(95): Show c.1181_*1264delTTAAAGGGCCCTTCACTGGTGCGTGGGTGAATGC GGTCCCCGGCCTCCTGGGACCTCGAGGAACACAGGACGCAGCCGGTAGTA		DHRS11	ENSG00000278535.5	transcript	ENST00000618403.5	protein_coding					580		chr17	TogoVar
DLC1_chr8_13078361_13519851	13453418	ATATATGT others(77): Show ATATATGTGTATATATATATGTATATATATACATATATATATGTATATAT ATACATATATATGTATATATATACATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	212	0.0047	-84	c.102 others(105): Show c.1023+45547_1023+45630delCATATATATATGTATATATATACA TATATATGTATATATATACATATATATATGTATATATATACATATATATA TACACATATA		DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17						chr8	TogoVar
DLGAP2_chr8_732628_1713476	1103346	CTTGGTTA others(77): Show CTTGGTTAACGGTGATGACTGACGGGGACTTGGTTAACGGTGACGACTGG CAGGGCCTTGTTTAACGGTGATGACTGGCAGGGCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0032 a0002c0001t0002g0032	1	40	0.0250	-84	c.74- others(103): Show c.74-155484_74-155401delACGGGGACTTGGTTAACGGTGACGAC TGGCAGGGCCTTGTTTAACGGTGATGACTGGCAGGGCTTTGGTTAACGGT GATGACTG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1103430	TTTGGTTA others(77): Show TTTGGTTAACGGTGATGACTGGCGGGGCCTTGGTTAACGTTGATGACTGG CGGGGCCTTGGTTGACGGTGATGACTGGCGGGGCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02818.hp1 HG03486.hp2 others(2): Show HG00639.hp1 HG02818.hp1 HG03486.hp2 HG03516.hp2 NA18906.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0003 a0001c0012 others(1): Show a0001c0002 a0001c0003 a0001c0012 a0006c0011	a0001c0002t0001 a0001c0002t0027 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0027 a0001c0003t0001 a0001c0012t0012 a0006c0011t0016	a0001c0002t0001g0019 a0001c0002t0027g0023 a0001c0003t0001g0026 others(2): Show a0001c0002t0001g0019 a0001c0002t0027g0023 a0001c0003t0001g0026 a0001c0012t0012g0006 a0006c0011t0016g0029	5	40	0.1250	-84	c.74- others(103): Show c.74-155414_74-155331delAACGGTGATGACTGGCGGGGCCTTGG TTAACGTTGATGACTGGCGGGGCCTTGGTTGACGGTGATGACTGGCGGGG CCTTGGTT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1130804	TGCAGCGG others(77): Show TGCAGCGGCTGGGCTGAGAGACCGGAGATGGGCCTCCCTGATGAGGGGAA GGGTGGCCTCTCTTCATAGCATGACCCCTAGCTCG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	40	0.0250	-84	c.74- others(103): Show c.74-128019_74-127936delTGGGCCTCCCTGATGAGGGGAAGGGT GGCCTCTCTTCATAGCATGACCCCTAGCTCGGCAGCGGCTGGGCTGAGAG ACCGGAGA		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32390385	TATCATAA others(77): Show TATCATAAATATTTTTTACTTTCATAAATTATCCAAGTGAAACGATTTAT TTCTTCCCTATGGGATTATTATGAAAAAAGCAATA	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp2 HG02735.hp1 others(1): Show HG02683.hp1 HG02683.hp2 HG02735.hp1 HG03710.hp1	a0001 a0006 a0013 others(1): Show a0001 a0006 a0013 a0023	a0001c0001 a0006c0006 a0013c0060 others(1): Show a0001c0001 a0006c0006 a0013c0060 a0023c0033	a0001c0001t0001 a0006c0006t0008 a0013c0060t0003 others(1): Show a0001c0001t0001 a0006c0006t0008 a0013c0060t0003 a0023c0033t0001	a0001c0001t0001g0037 a0006c0006t0008g0031 a0013c0060t0003g0072 others(1): Show a0001c0001t0001g0037 a0006c0006t0008g0031 a0013c0060t0003g0072 a0023c0033t0001g0089	4	126	0.0318	-84	c.423 others(101): Show c.4234-288_4234-205delTATTGCTTTTTTCATAATAATCCCATAG GGAAGAAATAAATCGTTTCACTTGGATAATTTATGAAAGTAAAAAATATT TATGAT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	30/78						chrX	TogoVar
DNAH7_chr2_195732703_196073837	195957537	GTTGTATA others(77): Show GTTGTATATAATGTTATACAATTGTTATACATTATATACAATCTTGTATA TAATGTTATACAATTGTTATACATTATATACAATC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02809.hp2 others(11): Show HG02451.hp2 HG02486.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03209.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp2 NA21309.hp2	a0012 a0016 a0030 others(4): Show a0012 a0016 a0030 a0037 a0039 a0041 a0043	a0012c0011 a0016c0013 a0030c0028 others(4): Show a0012c0011 a0016c0013 a0030c0028 a0037c0030 a0039c0029 a0041c0026 a0043c0027	a0012c0011t0003 a0016c0013t0003 a0030c0028t0001 others(4): Show a0012c0011t0003 a0016c0013t0003 a0030c0028t0001 a0037c0030t0011 a0039c0029t0003 a0041c0026t0001 a0043c0027t0001	a0012c0011t0003g0024 a0012c0011t0003g0025 a0012c0011t0003g0026 others(11): Show a0012c0011t0003g0024 a0012c0011t0003g0025 a0012c0011t0003g0026 a0012c0011t0003g0027 a0012c0011t0003g0029 a0016c0013t0003g0017 a0016c0013t0003g0018 a0016c0013t0003g0019 a0016c0013t0003g0020 a0030c0028t0001g0021 a0037c0030t0011g0238 a0039c0029t0003g0022 a0041c0026t0001g0028 a0043c0027t0001g0023	14	256	0.0547	-84	c.289 others(100): Show c.2892-174_2892-91delGATTGTATATAATGTATAACAATTGTATA ACATTATATACAAGATTGTATATAATGTATAACAATTGTATAACATTATA TACAA		DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	18/64						chr2	TogoVar
DNAL1_chr14_73639986_73708732	73704524	GACCTCTT others(77): Show GACCTCTTATCTCTGTGCCCCAATCCCTTATTTCTGCACCCCGACCTCTC AACTCTGTGCCCCAATCCCTTATTTCTGCACCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01943.hp2 HG01993.hp2 HG01928.hp2 HG01943.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0076 a0001c0001t0001 a0001c0001t0076	a0001c0001t0001g0245 a0001c0001t0001g0256 a0001c0001t0076g0265 a0001c0001t0001g0245 a0001c0001t0001g0256 a0001c0001t0076g0265	3	340	0.0088	-84	c.85 others(95): Show c.8583_*8666delACCTCTTATCTCTGTGCCCCAATCCCTTATTTCT GCACCCCGACCTCTCAACTCTGTGCCCCAATCCCTTATTTCTGCACCCCA		DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding					793		chr14	TogoVar
DNER_chr2_229352629_229719555	229563057	ACATCATC others(77): Show ACATCATCCTCCTCACCCCATCACCATCATCATCAACATCATCACACCAT CACCATCATCATCCTCCTCCTCATCCCATCACCAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02630.hp2 HG02717.hp2 others(5): Show HG01106.hp1 HG02630.hp2 HG02717.hp2 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0034 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0117 a0001c0001t0001g0148 a0001c0002t0001g0156	8	176	0.0455	-84	c.848 others(103): Show c.848-16049_848-15966delATGGTGATGGGATGAGGAGGAGGATG ATGATGGTGATGGTGTGATGATGTTGATGATGATGGTGATGGGGTGAGGA GGATGATG		DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	4/12						chr2	TogoVar
DOCK8_chr9_209865_470255	400869	TCACCACC others(77): Show TCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTC ACCATCACCACAACATCCACCACCACCATCACCAC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0111 a0002c0008t0001g0111	1	256	0.0039	-84	c.323 others(103): Show c.3234+1621_3234+1704delTCCACCACCACCACCTCCCCCACTAC CAACAGCTCCTTCACCATCACCACAACATCCACCACCACCATCACCACCA CCACCACC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	403910	ATATATAC others(77): Show ATATATACATATATATATATGTGTATATATATATGTGTATATATATATAT GTATATATATATATATGTGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp1 HG01243.hp2 others(18): Show HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01891.hp1 HG01975.hp2 HG02055.hp2 HG02145.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03130.hp2 HG03195.hp1 HG03516.hp1 NA18939.hp2 NA20300.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0006 a0013 a0014 a0018 a0019 a0020 a0021 a0034 a0037 a0043 a0046	a0001c0002 a0001c0003 a0002c0012 others(17): Show a0001c0002 a0001c0003 a0002c0012 a0002c0096 a0003c0004 a0006c0025 a0013c0080 a0013c0093 a0013c0094 a0014c0018 a0014c0069 a0018c0144 a0019c0031 a0019c0047 a0020c0153 a0021c0126 a0034c0090 a0037c0038 a0043c0087 a0046c0154	a0001c0002t0001 a0001c0003t0001 a0002c0012t0001 others(17): Show a0001c0002t0001 a0001c0003t0001 a0002c0012t0001 a0002c0096t0001 a0003c0004t0001 a0006c0025t0001 a0013c0080t0001 a0013c0093t0001 a0013c0094t0001 a0014c0018t0002 a0014c0069t0002 a0018c0144t0001 a0019c0031t0001 a0019c0047t0001 a0020c0153t0001 a0021c0126t0002 a0034c0090t0003 a0037c0038t0001 a0043c0087t0001 a0046c0154t0001	a0001c0002t0001g0115 a0001c0003t0001g0117 a0002c0012t0001g0093 others(18): Show a0001c0002t0001g0115 a0001c0003t0001g0117 a0002c0012t0001g0093 a0002c0096t0001g0010 a0003c0004t0001g0141 a0006c0025t0001g0186 a0013c0080t0001g0061 a0013c0093t0001g0009 a0013c0094t0001g0095 a0014c0018t0002g0007 a0014c0018t0002g0011 a0014c0069t0002g0008 a0018c0144t0001g0166 a0019c0031t0001g0220 a0019c0047t0001g0022 a0020c0153t0001g0175 a0021c0126t0002g0122 a0034c0090t0003g0019 a0037c0038t0001g0026 a0043c0087t0001g0083 a0046c0154t0001g0171	21	256	0.0820	-84	c.323 others(102): Show c.3235-1001_3235-918delCATATATATATATGTGTATATATATAT GTGTATATATATATATGTATATATATATATATGTGTATATATATATATGT GTATATA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP2_chr16_67982394_68004484	68001947	TACCTTTT others(77): Show TACCTTTTCCGAAACATTTTTTGTAAGATTAAAAAAAGAGAAAAGAAGGA AGGAAGGAAGGAATAAAGAAAAGAAAAGAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	-84	c.-27 others(95): Show c.-2702_-2619delTTTTTTTCTTTTCTTTTCTTTATTCCTTCCTTCC TTCCTTCTTTTCTCTTTTTTTAATCTTACAAAAAATGTTTCGGAAAAGGT		DPEP2	ENSG00000167261.14	transcript	ENST00000393847.6	protein_coding					2464		chr16	TogoVar
DPH7_chr9_137549444_137583925	137568177	GTCTGTGA others(77): Show GTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGG GTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01361.hp2 HG02738.hp1 HG00140.hp2 HG01361.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0061 a0001c0001t0001g0162 a0001c0001t0001g0038 a0001c0001t0001g0061 a0001c0001t0001g0162	3	340	0.0088	-84	c.641 others(101): Show c.641-3107_641-3024delGTCACCCAGGGGAGCTTCCTCACAGACA GAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCT CACAGA		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137568232	TCTGTCTG others(77): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0287 a0001c0001t0002g0287	1	340	0.0029	-84	c.641 others(101): Show c.641-3162_641-3079delTCACCCAGGGGAGCTTCCTCACAGACAG AGTCACCCAGGGGAGCTTCCTCACAGAGTCACCCAGGGGAGCTTCCTCAC AGACAG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPP10_chr2_114437641_115850780	114497264	TACATGTA others(77): Show TACATGTACATGTATACGTGTATACATGTACATGTATACGTGTATACATG TACATGTATACGTGTATACATGTACATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp2 HG02896.hp2 others(2): Show HG02809.hp1 HG02818.hp2 HG02896.hp2 HG03579.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0003 a0001c0002 a0002c0001 a0003c0003	a0001c0002t0001 a0002c0001t0002 a0003c0003t0003 a0001c0002t0001 a0002c0001t0002 a0003c0003t0003	a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0017 others(2): Show a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0017 a0002c0001t0002g0026 a0003c0003t0003g0001	5	56	0.0893	-84	c.60+ others(101): Show c.60+54437_60+54520delGTATACGTGTATACATGTACATGTATAC GTGTATACATGTACATGTATACGTGTATACATGTACATATACATACACAT GTACAT		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP9_chr19_4670227_4728842	4672001	ATATATAT others(77): Show ATATATATATTCATATATTCACATATGTGAATATATATTCATATATTCAC ATATGTGAATATATATTCATATATTCATATATACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	314	0.0032	-84	c.44 others(95): Show c.4479_*4562delAGTATATATGAATATATGAATATATATTCACATA TGTGAATATATGAATATATATTCACATATGTGAATATATGAATATATATA		DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding					3225		chr19	TogoVar
DSPP_chr4_87603529_87621873	87615923	CAGTGACA others(77): Show CAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCG ACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03654.hp2 HG03654.hp2	a0049 a0049	a0049c0061 a0049c0061	a0049c0061t0001 a0049c0061t0001	a0049c0061t0001g0052 a0049c0061t0001g0052	1	450	0.0022	-84	c.326 others(93): Show c.3262_3345delAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGC AGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGT	p.Ser others(15): Show p.Ser1088_Ser1115del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3382/4331	3262/3906	1088/1301			chr4	TogoVar
DUXA_chr19_57149021_57172485	57172083	GGGGGCGG others(77): Show GGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCG AGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	446	0.0022	-84	c.-47 others(95): Show c.-4724_-4641delTCGCGCGCCCCGCCCCCTCGCGCGCCCCGCCCCC TCGCGCGCCCCGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCCGCCCC		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4599		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172106	GGGGCGCG others(77): Show GGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGG CGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02451.hp2 others(8): Show HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02717.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0199 others(8): Show a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0132 a0001c0001t0003g0123 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0130	11	446	0.0247	-84	c.-47 others(95): Show c.-4747_-4664delGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC GCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCC		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4622		chr19	TogoVar
DVL1_chr1_1330278_1354418	1346849	TCTTCCCC others(77): Show TCTTCCCCCCATCTCCAACTACATTCGCTTGGCATCCAGGGTCAGTGTCT AGTTCAGCAGTCGCTTAAGCTAAAGTATTACTGAC	T T	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	344	0.0029	-84	c.170 others(101): Show c.170+1963_170+2046delGTCAGTAATACTTTAGCTTAAGCGACTG CTGAACTAGACACTGACCCTGGATGCCAAGCGAATGTAGTTGGAGATGGG GGGAAG		DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding	1/14						chr1	TogoVar
DYNC1I1_chr7_95767554_96103424	95863298	CCAAGTAA others(77): Show CCAAGTAAGTAGAAAACATATTATTAGTGGTTGTCAAGGGCTAGGCGAGG CGGGAATGGGGAGTGACTGCCAGTAGGCACAGGAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	230	0.0044	-84	c.375 others(101): Show c.375-6584_375-6501delCAAGTAAGTAGAAAACATATTATTAGTG GTTGTCAAGGGCTAGGCGAGGCGGGAATGGGGAGTGACTGCCAGTAGGCA CAGGAT		DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	5/16						chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158917442	GCTAAACA others(77): Show GCTAAACACCTCCTGTCCTCCACACTCCACCCTCCACCTCTCACTAAACA CCTCCTGTCCTCCACACTCCACCCTCTGCCTCTCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0023 a0003c0031t0023	a0003c0031t0023g0237 a0003c0031t0023g0237	1	274	0.0037	-84	c.179 others(103): Show c.1792-1263_1792-1180delACCTCTCACTAAACACCTCCTGTCCT CCACACTCCACCCTCTGCCTCTCACTAAACACCTCCTGTCCTCCACACTC CACCCTCC		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158917519	GCCTCTCA others(77): Show GCCTCTCACTAAACACCTCCTGTCCTCCACACTCCACCCTCCGCCTCTCG CTAAACACCCCCTGCCCTCCACACTCCACCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	274	0.0037	-84	c.179 others(103): Show c.1792-1120_1792-1037delTCCTGTCCTCCACACTCCACCCTCCG CCTCTCGCTAAACACCCCCTGCCCTCCACACTCCACCCTCCACCTCTCAC TAAACACC		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNLT2B_chr3_196286219_196323240	196317394	GTGTGTGT others(77): Show GTGTGTGTAAAGTTAGTGATCTCACAAACCTAGCTGAGTACCCTCTGCTC TGGCCCGTGAGCCTGATATTTTTTTCAGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19240.hp2 HG02559.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	330	0.0061	-84	c.113 others(99): Show c.113+562_113+645delACACACACTGAAAAAAATATCAGGCTCACG GGCCAGAGCAGAGGGTACTCAGCTAGGTTTGTGAGATCACTAACTTTACA CACA		DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4						chr3	TogoVar
DYNLT2B_chr3_196286219_196323240	196317396	GTGTGTAA others(77): Show GTGTGTAAAGTTAGTGATCTCACAAACCTAGCTGAGTACCCTCTGCTCTG GCCCGTGAGCCTGATATTTTTTTCAGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA21309.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0143 a0001c0001t0001g0057 a0001c0001t0001g0143	2	330	0.0061	-84	c.113 others(99): Show c.113+560_113+643delACACACACACTGAAAAAAATATCAGGCTCA CGGGCCAGAGCAGAGGGTACTCAGCTAGGTTTGTGAGATCACTAACTTTA CACA		DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4						chr3	TogoVar
EDDM13_chr19_56267748_56315454	56306384	CGCCAGAG others(77): Show CGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTAT CTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02818.hp2 HG02970.hp1 others(2): Show HG01109.hp1 HG02818.hp2 HG02970.hp1 HG03139.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0094 others(2): Show a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0303	5	396	0.0126	-84	c.461 others(101): Show c.461+1586_461+1669delCTTCTCTTCCCTCGGTATCTGCAAAGAG GGTCCCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGACAGAT GGGAGA		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56306636	CGCCAGAG others(77): Show CGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTAT CTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp1 others(194): Show HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0002c0004 others(3): Show a0001c0001 a0001c0002 a0002c0004 a0004c0008 a0005c0005 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0002c0004t0001 a0004c0008t0001 a0005c0005t0001 a0006c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(172): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0356 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0186 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0208 a0001c0001t0003g0236 a0001c0001t0003g0303 a0001c0001t0003g0322 a0001c0001t0003g0338 a0001c0001t0004g0308 a0001c0001t0007g0304 a0001c0002t0001g0036 a0001c0002t0001g0037 a0002c0004t0001g0026 a0004c0008t0001g0291 a0005c0005t0001g0277 a0006c0006t0001g0097	197	396	0.4975	-84	c.461 others(101): Show c.461+1838_461+1921delCTTCTCTTCCCTCGGTATCTGCAAAGAG GGTCCCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGACAGAT GGGAGA		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56306836	TTTCTCTT others(77): Show TTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCAC GTCGCCAGAGAAAGTACTAAGGACAGATGGGAGAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0101 a0001c0001t0006g0101	1	396	0.0025	-84	c.461 others(101): Show c.461+2102_461+2185delTGATAGCTACAAAGAGGCTCCTCCCTGG CCTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTC TTCCCT		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56306972	CGCCAGAG others(77): Show CGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTAT CTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01109.hp1 others(8): Show HG00323.hp2 HG00642.hp1 HG01109.hp1 HG02559.hp2 HG02615.hp2 HG02818.hp2 HG02895.hp2 HG02970.hp1 HG03139.hp2 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0058 a0001c0001t0001g0212 a0001c0001t0001g0340 others(8): Show a0001c0001t0001g0058 a0001c0001t0001g0212 a0001c0001t0001g0340 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0236 a0001c0001t0003g0303 a0001c0001t0003g0322 a0001c0001t0003g0338	11	396	0.0278	-84	c.461 others(101): Show c.461+2174_461+2257delCTTCTCTTCCCTCGGTATCTGCAAAGAG GGTCCCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGACAGAT GGGAGA		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56307004	CTTCTCTT others(77): Show CTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCT GTTGCCAGAGAAAGTACTAAGGACAGATGGGAGAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	2	396	0.0051	-84	c.461 others(101): Show c.461+2186_461+2269delCGGTATCTGCAAAGAGGGTCCCCCCCGG CCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTC TTCCCT		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
EEF1B2_chr2_206154895_206167928	206166933	AAATAATC others(77): Show AAATAATCTAAAAGTTCAGAAGGTCAGAGACGGCTAGAATTGATGACAAG TTTTTTGGAAGAATCAGATATAAAGATTTGGGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	-84	c.40 others(95): Show c.4051_*4134delAATAATCTAAAAGTTCAGAAGGTCAGAGACGGCT AGAATTGATGACAAGTTTTTTGGAAGAATCAGATATAAAGATTTGGGAAG		EEF1B2	ENSG00000114942.15	transcript	ENST00000392222.7	protein_coding					4006		chr2	TogoVar

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