Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(27): Show TATATATATATATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0067 a0001c0001t0008g0067	1	115	0.0087	34	c.669 others(49): Show c.669+382_669+383insTATATATATATATATATACACACACACACA CACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26931203	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	123	0.0081	34	c.670 others(49): Show c.670-436_670-435insGTATATATATATATATATATATATATATAT ATAT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26931203	G G	GTGTGTGT others(27): Show GTGTGTGTGTATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	123	0.0081	34	c.670 others(49): Show c.670-436_670-435insGTGTGTGTATGTATATATATATATATATAT ATAT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRAM1_chr12_101872580_101928612	101920297	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG04184.hp2 NA18963.hp2 others(1): Show HG02074.hp1 HG04184.hp2 NA18963.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0126 a0001c0001t0001g0154 a0001c0001t0001g0202 others(1): Show a0001c0001t0001g0126 a0001c0001t0001g0154 a0001c0001t0001g0202 a0001c0001t0010g0324	4	306	0.0131	34	c.672 others(49): Show c.672+115_672+116insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRC1_chr2_26396920_26461711	26439922	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0175 a0006c0008t0001g0175	1	257	0.0039	34	c.889 others(49): Show c.889-455_889-454insAATATATATATATATATATATATATATATA TATA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439922	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG00735.hp2 others(22): Show HG00438.hp2 HG00639.hp2 HG00735.hp2 HG01978.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02165.hp2 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03579.hp1 HG03704.hp1 NA18522.hp2 NA18944.hp2 NA18954.hp1 NA18963.hp1 NA18964.hp1 NA18991.hp1 NA19002.hp2 NA19075.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0008 a0011	a0001c0001 a0003c0005 a0004c0003 others(3): Show a0001c0001 a0003c0005 a0004c0003 a0005c0006 a0008c0011 a0011c0014	a0001c0001t0001 a0003c0005t0001 a0003c0005t0003 others(4): Show a0001c0001t0001 a0003c0005t0001 a0003c0005t0003 a0004c0003t0001 a0005c0006t0001 a0008c0011t0005 a0011c0014t0001	a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0052 others(22): Show a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0225 a0001c0001t0001g0323 a0001c0001t0001g0338 a0003c0005t0001g0022 a0003c0005t0001g0273 a0003c0005t0001g0298 a0003c0005t0003g0324 a0004c0003t0001g0090 a0004c0003t0001g0201 a0004c0003t0001g0216 a0004c0003t0001g0227 a0004c0003t0001g0236 a0004c0003t0001g0243 a0004c0003t0001g0251 a0004c0003t0001g0255 a0005c0006t0001g0237 a0005c0006t0001g0240 a0005c0006t0001g0241 a0005c0006t0001g0242 a0005c0006t0001g0248 a0008c0011t0005g0309 a0011c0014t0001g0055	25	281	0.0890	34	c.889 others(49): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TATA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439936	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02258.hp1 HG02622.hp2 others(7): Show HG02027.hp2 HG02258.hp1 HG02622.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03516.hp1 NA18993.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0004 a0001c0007 a0003c0004	a0001c0007t0002 a0003c0004t0001 a0003c0004t0003 a0001c0007t0002 a0003c0004t0001 a0003c0004t0003	a0001c0007t0002g0293 a0003c0004t0001g0019 a0003c0004t0001g0159 others(6): Show a0001c0007t0002g0293 a0003c0004t0001g0019 a0003c0004t0001g0159 a0003c0004t0001g0314 a0003c0004t0001g0316 a0003c0004t0001g0321 a0003c0004t0003g0310 a0003c0004t0003g0311 a0003c0004t0003g0317	10	264	0.0379	34	c.889 others(49): Show c.889-441_889-440insTATATATATATATATATATATATATATACA CACA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439936	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02559.hp1 HG03486.hp2 others(2): Show HG02004.hp2 HG02559.hp1 HG03486.hp2 HG03516.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0003c0005 a0001c0001 a0003c0004 a0003c0005	a0001c0001t0001 a0003c0004t0001 a0003c0004t0003 others(1): Show a0001c0001t0001 a0003c0004t0001 a0003c0004t0003 a0003c0005t0003	a0001c0001t0001g0066 a0003c0004t0001g0258 a0003c0004t0001g0261 others(2): Show a0001c0001t0001g0066 a0003c0004t0001g0258 a0003c0004t0001g0261 a0003c0004t0003g0029 a0003c0005t0003g0354	5	259	0.0193	34	c.889 others(49): Show c.889-441_889-440insTATATATATATATATATATATATATATATA CACA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439936	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp2 HG01255.hp1 others(14): Show HG01071.hp2 HG01106.hp2 HG01255.hp1 HG01515.hp2 HG01928.hp1 HG02129.hp1 HG02148.hp2 HG02486.hp2 HG03041.hp2 HG03471.hp2 HG04199.hp1 NA18944.hp1 NA19030.hp2 NA19068.hp1 NA19077.hp2 NA19081.hp1 NA20905.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0001c0007 a0003c0005 others(2): Show a0001c0001 a0001c0007 a0003c0005 a0005c0006 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0007t0001 a0003c0005t0003 a0005c0006t0001 a0007c0009t0001	a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0037 others(13): Show a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0003g0040 a0001c0001t0004g0079 a0001c0007t0001g0339 a0003c0005t0003g0274 a0005c0006t0001g0226 a0007c0009t0001g0189	17	271	0.0627	34	c.889 others(49): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TACA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRD3_chr3_114122580_114184052	114156743	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0151 a0002c0001t0004g0151	1	320	0.0031	34	c.383 others(51): Show c.383+3011_383+3012insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	3/6			chr3	TogoVar
DROSHA_chr5_31395494_31537093	31397451	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 NA18522.hp1 HG00735.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0014 a0001c0003 a0001c0014	a0001c0003t0003 a0001c0014t0002 a0001c0003t0003 a0001c0014t0002	a0001c0003t0003g0249 a0001c0014t0002g0228 a0001c0003t0003g0249 a0001c0014t0002g0228	2	296	0.0068	34	c.39 others(45): Show c.3980_*3981insATATATATATATATATATATATATATATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3042		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31397452	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02886.hp1 NA18522.hp2 others(9): Show HG01978.hp1 HG02886.hp1 NA18522.hp2 NA18961.hp2 NA18967.hp2 NA18992.hp1 NA19001.hp1 NA19056.hp2 NA19074.hp2 NA19078.hp2 NA19082.hp2 NA20905.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0002 a0001c0003 a0001c0012 others(2): Show a0001c0002 a0001c0003 a0001c0012 a0003c0034 a0008c0036	a0001c0002t0001 a0001c0002t0006 a0001c0003t0003 others(3): Show a0001c0002t0001 a0001c0002t0006 a0001c0003t0003 a0001c0012t0001 a0003c0034t0008 a0008c0036t0003	a0001c0002t0001g0178 a0001c0002t0001g0218 a0001c0002t0006g0306 others(9): Show a0001c0002t0001g0178 a0001c0002t0001g0218 a0001c0002t0006g0306 a0001c0003t0003g0033 a0001c0003t0003g0053 a0001c0003t0003g0158 a0001c0003t0003g0166 a0001c0003t0003g0191 a0001c0003t0003g0243 a0001c0012t0001g0093 a0003c0034t0008g0291 a0008c0036t0003g0068	12	57	0.2105	34	c.39 others(45): Show c.3979_*3980insTATATATATATATATATATATATATATATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3041		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0166 a0001c0003t0003g0166	1	259	0.0039	34	c.342 others(51): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATTTTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421917	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0003 a0001c0024t0003	a0001c0024t0003g0057 a0001c0024t0003g0057	1	129	0.0078	34	c.342 others(51): Show c.3420-541_3420-540insACACACACACACACACACACACACACAC ACACAC	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31480178	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01515.hp1 NA18941.hp2 others(1): Show HG01261.hp1 HG01515.hp1 NA18941.hp2 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0005 a0001c0001 a0002c0004 a0002c0005	a0001c0001t0005 a0002c0004t0002 a0002c0004t0004 others(1): Show a0001c0001t0005 a0002c0004t0002 a0002c0004t0004 a0002c0005t0001	a0001c0001t0005g0322 a0002c0004t0002g0155 a0002c0004t0004g0020 others(1): Show a0001c0001t0005g0322 a0002c0004t0002g0155 a0002c0004t0004g0020 a0002c0005t0001g0270	4	22	0.1818	34	c.207 others(53): Show c.2071+3375_2071+3376insTATATATATATATATATATATATATA TATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	16/35			chr5	TogoVar
DSCAML1_chr11_117422772_117802216	117780231	G G	GAAAGGAA others(27): Show GAAAGGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19240.hp2 HG02258.hp1 NA19240.hp2	a0002 a0002	a0002c0006 a0002c0059 a0002c0006 a0002c0059	a0002c0006t0002 a0002c0059t0002 a0002c0006t0002 a0002c0059t0002	a0002c0006t0002g0041 a0002c0059t0002g0040 a0002c0006t0002g0041 a0002c0059t0002g0040	2	149	0.0134	34	c.364 others(49): Show c.364+261_364+262insTTTCTTTCTTTTTCTTTCTTTCTTTCTTTC CTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	2/32			chr11	TogoVar
DSP_chr6_7536671_7591714	7554125	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02071.hp2 HG01934.hp2 HG02071.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0002 a0001c0001t0001 a0003c0005t0002	a0001c0001t0001g0246 a0003c0005t0002g0243 a0001c0001t0001g0246 a0003c0005t0002g0243	2	348	0.0057	34	c.171 others(51): Show c.171-1592_171-1591insACACACACACACACACACACACACACAC ACACCC	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
DST_chr6_56452996_56959830	56654586	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02071.hp1 HG03471.hp2 HG00741.hp1 HG02071.hp1 HG03471.hp2	a0004 a0012 a0025 a0004 a0012 a0025	a0004c0003 a0012c0009 a0025c0039 a0004c0003 a0012c0009 a0025c0039	a0004c0003t0001 a0012c0009t0003 a0025c0039t0001 a0004c0003t0001 a0012c0009t0003 a0025c0039t0001	a0004c0003t0001g0008 a0012c0009t0003g0062 a0025c0039t0001g0083 a0004c0003t0001g0008 a0012c0009t0003g0062 a0025c0039t0001g0083	3	45	0.0667	34	c.121 others(53): Show c.1215-3343_1215-3342insTATATATATATATATATATATATATA TATATATA	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	10/103			chr6	TogoVar
DUS2_chr16_68018284_68084320	68020829	G G	GTATATAT others(27): Show GTATATATATATATATACGTATGTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	220	0.0045	34	c.-26 others(45): Show c.-2621_-2620insTATATATATATATATACGTATGTATATATATATA	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding		2454		chr16	TogoVar
DUSP11_chr2_73757213_73785103	73776116	A A	AAAAAATA others(27): Show AAAAAATAGACTAGTTTGGCTGGGTGCGGTGGCTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	384	0.0026	34	c.178 others(51): Show c.178-1106_178-1073dupGAGCCACCGCACCCAGCCAAACTAGTCT ATTTTT	DUSP11	ENSG00000144048.11	transcript	ENST00000272444.8	protein_coding	2/8			chr2	TogoVar
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(27): Show TCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19077.hp1 NA18906.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0282 a0001c0001t0022g0340 a0001c0001t0001g0282 a0001c0001t0022g0340	2	188	0.0106	34	c.-36 others(53): Show c.-366+1170_-366+1171insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(27): Show TCACACACCCACACCCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0075	1	187	0.0053	34	c.-36 others(53): Show c.-366+1170_-366+1171insTGTGTGTGTGTGTGTGTGTGGGTGTG GGTGTGTG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP18_chr22_30656445_30672875	30669675	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0126 a0001c0001t0006g0126	1	90	0.0111	34	c.-22 others(45): Show c.-2292_-2291insATATATATATATATATATATATATATATATATAT	DUSP18	ENSG00000167065.14	transcript	ENST00000334679.4	protein_coding		1801		chr22	TogoVar
DUSP26_chr8_33586330_33605023	33597882	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00673.hp2 others(5): Show HG00597.hp2 HG00609.hp1 HG00673.hp2 HG02040.hp2 HG04184.hp1 NA18956.hp1 NA18973.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0002g0024 a0001c0001t0001g0014 a0001c0001t0002g0024	8	140	0.0571	34	c.-76 others(49): Show c.-76-292_-76-291insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding	1/3			chr8	TogoVar
DUXA_chr19_57149021_57172485	57171993	C C	CGCGAGCG others(27): Show CGCGAGCGGGGGTCCGGGGGGCGGGGGGCCGCGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	423	0.0024	34	c.-45 others(45): Show c.-4551_-4550insCTCGCGGCCCCCCGCCCCCCGGACCCCCGCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4509		chr19	TogoVar
DUXA_chr19_57149021_57172485	57171993	C C	CGCGAGCG others(27): Show CGCGAGCGGGGGTCCGGGGGGGCGGGGGGCCGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	423	0.0024	34	c.-45 others(45): Show c.-4551_-4550insTCGCGGCCCCCCGCCCCCCCGGACCCCCGCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4509		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172019	G G	GGGGCGCG others(27): Show GGGGCGCGCGAGGGGGGCGGGGCGCGCGAGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02895.hp1 others(1): Show HG01884.hp2 HG02486.hp2 HG02895.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0112 a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0112	4	444	0.0090	34	c.-45 others(45): Show c.-4577_-4576insGCCCCCTCGCGCGCCCCGCCCCCCTCGCGCGCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4535		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172071	G G	GGGGGCGC others(27): Show GGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01943.hp1 others(5): Show HG01069.hp1 HG01071.hp2 HG01943.hp1 HG02735.hp1 NA18522.hp2 NA18968.hp1 NA18981.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0035 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0254 a0001c0001t0001g0297 a0001c0001t0002g0036 a0001c0001t0002g0192 a0001c0001t0002g0208	8	346	0.0231	34	c.-46 others(45): Show c.-4629_-4628insGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4587		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172078	C C	CGCGAGGG others(27): Show CGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 NA18955.hp1 HG00558.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0177 a0001c0001t0001g0005 a0001c0001t0001g0177	2	432	0.0046	34	c.-46 others(45): Show c.-4636_-4635insACGCCCCGCCCCCTCGCGCGCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4594		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172095	C C	CGCGAGGG others(27): Show CGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 NA18942.hp1 others(2): Show HG01516.hp1 HG01517.hp2 NA18942.hp1 NA18970.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0156 a0001c0001t0001g0268 a0001c0001t0002g0025 others(1): Show a0001c0001t0001g0156 a0001c0001t0001g0268 a0001c0001t0002g0025 a0001c0001t0002g0179	5	375	0.0133	34	c.-46 others(45): Show c.-4653_-4652insACGCCCCGCCCCCTCGCGCGCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4611		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172095	C C	CGCGAGGG others(27): Show CGCGAGGGGGCGGGGCGTGCGAGGGGGCGGGGCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02683.hp2 HG03710.hp2 others(9): Show HG02155.hp2 HG02683.hp2 HG03710.hp2 NA18612.hp2 NA18940.hp1 NA18943.hp1 NA18963.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA19057.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0330 a0001c0001t0002g0006 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0181 a0001c0001t0002g0286	12	382	0.0314	34	c.-46 others(45): Show c.-4653_-4652insACGCCCCGCCCCCTCGCACGCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4611		chr19	TogoVar
DYM_chr18_49031387_49465645	49112113	G G	GCCTCCTC others(27): Show GCCTCCTCTCCGCACCCCCCTCCTCTCCGCACCCC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18982.hp2 NA18984.hp2 others(2): Show NA18747.hp2 NA18982.hp2 NA18984.hp2 NA19084.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0180 a0001c0001t0003g0182 others(2): Show a0001c0001t0003g0173 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0188 a0001c0001t0003g0189	5	137	0.0365	34	c.191 others(53): Show c.1911+6630_1911+6631insGGGGTGCGGAGAGGAGGGGGGTGCGG AGAGGAGG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	16/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49289788	T T	TATATATA others(27): Show TATATATATATATATACACATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	195	0.0051	34	c.764 others(51): Show c.764-3173_764-3172insGTATATATATATATATGTGTATATATAT ATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317551	T T	TTGTCTCT others(27): Show TTGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	220	0.0045	34	c.763 others(53): Show c.763+14312_763+14313insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGACA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	102047639	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0164 a0001c0010t0008g0164	1	192	0.0052	34	c.130 others(53): Show c.13007-177_13007-176insATATATATATATATATATATATATAT ATATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(27): Show GTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18953.hp2 NA19079.hp1 HG03834.hp1 NA18953.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0001t0002g0217 a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0001t0002g0217	3	109	0.0275	34	c.130 others(53): Show c.13007-175_13007-174insGTGTGTATATATATATATATATATAT ATATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(27): Show GTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	107	0.0093	34	c.130 others(53): Show c.13007-175_13007-174insGTGTGTGTATATATATATATATATAT ATATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1I1_chr7_95767554_96103424	95823952	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	43	0.0233	34	c.315 others(51): Show c.315-4078_315-4077insATATATATATATATATATATATATATAT ATATAT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNLT1_chr6_158631474_158649743	158636051	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	343	0.0058	34	c.77 others(43): Show c.775_*776insTATATATATATATATATATATATATATATACACA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		422		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	185	0.0054	34	c.75 others(43): Show c.757_*758insAATATATATATATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT2B_chr3_196286219_196323240	196317389	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTTGTGTGGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18952.hp1 HG03017.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0150 a0001c0001t0001g0018 a0001c0001t0001g0150	2	207	0.0097	34	c.113 others(49): Show c.113+650_113+651insCCACACACACACCACACAACACACACACAC ACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYNLT2B_chr3_196286219_196323240	196317488	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTTGTGTGGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	328	0.0030	34	c.113 others(49): Show c.113+551_113+552insCCACACACACACCACACAACACACACACAC ACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYNLT3_chrX_37833836_37852571	37848101	C C	CATTTTAA others(27): Show CATTTTAAAATAAATGTAGTAATTTTAAATTAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01070.hp2 others(32): Show HG00140.hp1 HG00735.hp2 HG01070.hp2 HG01081.hp2 HG01243.hp1 HG01255.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02165.hp1 HG02258.hp1 HG02559.hp2 HG02615.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18953.hp1 NA18956.hp2 NA18964.hp2 NA18968.hp2 NA19055.hp1 NA19240.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0011	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0002g0107 others(22): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0002g0107 a0001c0001t0004g0047 a0001c0001t0006g0050 a0001c0001t0009g0039 a0001c0001t0010g0108 a0001c0002t0001g0009 a0001c0002t0001g0040 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0106 a0001c0002t0002g0019 a0001c0002t0002g0043 a0001c0002t0002g0048 a0001c0002t0003g0035 a0001c0002t0003g0037 a0001c0002t0004g0020 a0001c0002t0004g0036 a0001c0002t0006g0034 a0001c0002t0006g0038 a0001c0002t0008g0041 a0001c0002t0008g0049 a0001c0002t0011g0042	35	322	0.1087	34	c.-59 others(43): Show c.-592_-591insTACTAATTTAAAATTACTACATTTATTTTAAAAT	DYNLT3	ENSG00000165169.11	transcript	ENST00000378578.9	protein_coding		531		chrX	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18991.hp1 NA19000.hp1 HG03834.hp2 NA18991.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0123 a0001c0001t0001 a0001c0001t0030 a0001c0001t0123	a0001c0001t0001g0063 a0001c0001t0030g0098 a0001c0001t0123g0007 a0001c0001t0001g0063 a0001c0001t0030g0098 a0001c0001t0123g0007	3	68	0.0441	34	c.10+ others(51): Show c.10+19769_10+19770insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(27): Show ACACACACACACACACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG02572.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0202 a0001c0001t0001g0033 a0001c0001t0001g0202	2	19	0.1053	34	c.696 others(51): Show c.696+1880_696+1881insACACACACACACACACACTCTCTCTCTC TCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(27): Show ACACACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03490.hp1 NA18981.hp1 others(1): Show HG01074.hp1 HG03490.hp1 NA18981.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0074 others(1): Show a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0090	4	21	0.1905	34	c.696 others(51): Show c.696+1880_696+1881insACACACACACACACACTCTCTCTCTCTC TCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(27): Show ACACACACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18983.hp2 NA18965.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0100 a0001c0001t0001g0061 a0001c0001t0001g0100	2	19	0.1053	34	c.696 others(51): Show c.696+1880_696+1881insACACACACACACTCTCTCTCTCTCTCTC TCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(27): Show ACACACACACACATACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0306 a0001c0001t0003g0306	1	18	0.0556	34	c.696 others(51): Show c.696+1880_696+1881insACACACACACATACACTCTCTCTCTCTC TCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(27): Show ACACACACACACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02922.hp1 HG02615.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0190 a0001c0001t0001g0197	2	19	0.1053	34	c.696 others(51): Show c.696+1880_696+1881insACACACACACTCTCTCTCTCTCTCTCTC TCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(27): Show ACACACACACTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18977.hp1 HG02280.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0191 a0001c0001t0001g0063 a0001c0001t0001g0191	2	19	0.1053	34	c.696 others(51): Show c.696+1880_696+1881insACACACACTCTCTCTCTCTCTCTCTCTC TCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar

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