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
AQP12A_chr2_240686866_240703483	240693786	ATCTCTCT others(180): Show ATCTCTCTCTGTCTCTCCTCTCTCTCTCTGTCTCTCCTCTCTCTCTCTGT CTCTCCTCTCTCTCTCTGTCTCTCCTCTCTCTCTCTGTCTCTCCTCTCTC TCTGTCTCCCTGTCTCTCTCTGTCTCTCCTCTCTCTCTCTGTCTCTCCTC TCTCTCTCTGTCTCTCCTCTCTCTCTCTGTCTCTCCTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(49): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01168.hp2 HG01256.hp1 HG01433.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02148.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02738.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp2 HG06807.hp2 NA18906.hp2 NA18942.hp2 NA18950.hp1 NA18952.hp1 NA18967.hp1 NA18967.hp2 NA18974.hp2 NA18986.hp1 NA18993.hp2 NA18999.hp2 NA19004.hp2 NA19010.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19082.hp1	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0011 a0013 a0014 a0017	a0002c0002 a0002c0007 a0004c0009 others(5): Show a0002c0002 a0002c0007 a0004c0009 a0005c0004 a0011c0011 a0013c0025 a0014c0022 a0017c0023	a0002c0002t0002 a0002c0007t0002 a0004c0009t0001 others(5): Show a0002c0002t0002 a0002c0007t0002 a0004c0009t0001 a0005c0004t0002 a0011c0011t0002 a0013c0025t0002 a0014c0022t0001 a0017c0023t0001	a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 others(21): Show a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0007t0002g0003 a0002c0007t0002g0014 a0002c0007t0002g0030 a0002c0007t0002g0034 a0002c0007t0002g0036 a0004c0009t0001g0066 a0005c0004t0002g0007 a0005c0004t0002g0015 a0005c0004t0002g0025 a0005c0004t0002g0026 a0005c0004t0002g0032 a0005c0004t0002g0033 a0005c0004t0002g0035 a0005c0004t0002g0038 a0011c0011t0002g0013 a0013c0025t0002g0031 a0014c0022t0001g0067 a0017c0023t0001g0037	52	128	0.4063	-187	c.572 others(15): Show c.572-601_572-415del	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP1_chr8_130047104_130448674	130049331	GGGGGCAG others(180): Show GGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGA GGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACA CATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGC AGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0308 a0001c0001t0013g0308	1	306	0.0033	-187	c.52 others(11): Show c.5213_*5399del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2772		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049538	GGGGGCAG others(180): Show GGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGA GGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGAGGG CAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	300	0.0033	-187	c.50 others(11): Show c.5006_*5192del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2565		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050033	TGGGGGCA others(180): Show TGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGAGGGCA GAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAA CACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGG GCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0119 a0002c0002t0003g0119	1	271	0.0037	-187	c.45 others(11): Show c.4511_*4697del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2070		chr8	TogoVar
ATP9B_chr18_79064394_79383283	79172318	TAGCCACC others(180): Show TAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTG TGATTACAGGCGTAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCT CCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCCCCGCCCTTCCGAT CCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01496.hp1 HG01081.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0100 a0001c0003t0003g0127 a0001c0001t0001g0100 a0001c0003t0003g0127	2	179	0.0112	-187	c.779 others(17): Show c.779-4421_779-4235del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79172396	CCCTTGCG others(180): Show CCCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGC CACCGTGCCCCGCCCTTCCGATCCGCCTTGGCCTCCCAAGGTGCTGTGAT TACAGGCGTGAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCCC AAGGTGCTGTGATTACAGGCGTAGCCACCGTGCGCCGA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03516.hp2 HG02559.hp1 HG03516.hp2	a0001 a0013 a0001 a0013	a0001c0010 a0013c0022 a0001c0010 a0013c0022	a0001c0010t0004 a0013c0022t0004 a0001c0010t0004 a0013c0022t0004	a0001c0010t0004g0276 a0013c0022t0004g0277 a0001c0010t0004g0276 a0013c0022t0004g0277	2	296	0.0068	-187	c.779 others(17): Show c.779-4357_779-4171del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	82972440	TAGAAGGA others(180): Show TAGAAGGACCTGGTGCTGACCACACCACACCACAGGGGCTAGAAGGACCT GGTGCCGACACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACAC CACACCACAGGGGATAGAAGGACCTGGTACTGACCACACCACACCACGGG CCAGAAGGACCTGGTGCCGACACACCACACCATGGGCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18943.hp1 NA18983.hp2 others(1): Show HG00597.hp1 NA18943.hp1 NA18983.hp2 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0022 a0001c0002 a0001c0006 a0002c0022	a0001c0002t0010 a0001c0006t0010 a0002c0022t0003 a0001c0002t0010 a0001c0006t0010 a0002c0022t0003	a0001c0002t0010g0103 a0001c0002t0010g0133 a0001c0006t0010g0011 others(1): Show a0001c0002t0010g0103 a0001c0002t0010g0133 a0001c0006t0010g0011 a0002c0022t0003g0030	4	155	0.0258	-187	c.460 others(17): Show c.460-6881_460-6695del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
C2CD4C_chr19_400445_414147	404225	GGGACGGG others(180): Show GGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGTCCTGA GGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGGTGTGGGGGGGAC GGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGG GGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0124 a0001c0002t0060g0124	1	318	0.0031	-187	c.26 others(11): Show c.2684_*2870del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1219		chr19	TogoVar
CANT1_chr17_78986716_79014764	79004310	AGGGGAGT others(180): Show AGGGGAGTTAGGGAGAGGGAGGTTAGGGAGGGGAGTTAGGGAGAGGGGGG TTAGGGAGAGGGGGGTTAGGGAGAAGGGAGTTAGGGAGGGGAGTTAGGGA GAGGGGAGTTAGGGAGGGGGGAGTTAGGGAGAGGAGTTAAGGAGAGGGGA GTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGG	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	385	0.0026	-187	c.-14 others(19): Show c.-147+5167_-147+5353del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CDH4_chr20_61247261_61945617	61784084	CGGGACAG others(180): Show CGGGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGT AATCCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCC CCAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGG TGTCTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0021 a0002c0004t0021	a0002c0004t0021g0050 a0002c0004t0021g0050	1	92	0.0109	-187	c.576 others(19): Show c.576+10915_576+11101del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61784249	GGAGAATG others(180): Show GGAGAATGTAAGCCCAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGTGT CTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAA GGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAATCCCAGTTCCTCGG GACAGTTCTCGAGGCCCTCAGATGTCCTGTGCCCCCAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0091 a0001c0001t0018g0091	1	89	0.0112	-187	c.576 others(19): Show c.576+11073_576+11259del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61784323	TCCCAGTT others(180): Show TCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCC AGGAGAATGTAATCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGATG TCCTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCA AGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(17): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00639.hp2 HG01081.hp2 HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG01496.hp2 HG01978.hp2 HG02040.hp1 HG02148.hp1 HG03195.hp2 HG03704.hp1 HG03704.hp2 HG04204.hp1 NA18952.hp1 NA18952.hp2 NA18960.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0021 others(7): Show a0001c0001 a0001c0003 a0001c0021 a0002c0002 a0002c0004 a0002c0005 a0002c0008 a0002c0009 a0002c0015 a0002c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0003t0039 a0001c0021t0005 a0002c0002t0003 a0002c0002t0013 a0002c0002t0014 a0002c0002t0022 a0002c0002t0036 a0002c0004t0001 a0002c0005t0007 a0002c0005t0010 a0002c0008t0001 a0002c0008t0024 a0002c0009t0032 a0002c0015t0007 a0002c0026t0010	a0001c0001t0001g0049 a0001c0001t0002g0058 a0001c0001t0002g0059 others(17): Show a0001c0001t0001g0049 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0075 a0001c0001t0013g0106 a0001c0003t0039g0063 a0001c0021t0005g0047 a0002c0002t0003g0076 a0002c0002t0013g0061 a0002c0002t0014g0072 a0002c0002t0022g0105 a0002c0002t0036g0057 a0002c0004t0001g0011 a0002c0005t0007g0099 a0002c0005t0010g0068 a0002c0008t0001g0028 a0002c0008t0024g0024 a0002c0009t0032g0026 a0002c0015t0007g0025 a0002c0026t0010g0078	20	101	0.1980	-187	c.576 others(19): Show c.576+11165_576+11351del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61784448	TCCCAGTT others(180): Show TCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCC AGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTG TCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCC AGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02647.hp2 HG02809.hp1 others(4): Show HG01106.hp1 HG02647.hp2 HG02809.hp1 HG02895.hp2 HG03130.hp2 HG03579.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0028 a0001c0003t0035 others(4): Show a0001c0001t0001 a0001c0001t0028 a0001c0003t0035 a0001c0006t0045 a0002c0004t0002 a0002c0004t0012 a0002c0004t0033	a0001c0001t0001g0032 a0001c0001t0028g0092 a0001c0003t0035g0043 others(4): Show a0001c0001t0001g0032 a0001c0001t0028g0092 a0001c0003t0035g0043 a0001c0006t0045g0070 a0002c0004t0002g0079 a0002c0004t0012g0016 a0002c0004t0033g0095	7	93	0.0753	-187	c.576 others(19): Show c.576+11290_576+11476del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDK12_chr17_39456486_39539544	39499039	CTTTCTTT others(180): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCCTTTTTTTTTTTTTTTTGA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	256	0.0039	-187	c.242 others(19): Show c.2420-2210_2420-2024del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13			chr17	TogoVar
CLTCL1_chr22_19174473_19296719	19260392	TAACTCTC others(180): Show TAACTCTCTTGTTAGGGGATAATGCAGCTGGTAACTTTAAATGGAAGGAA TGCTCACCGACCACTCCAAAAATCCTAAGGCCCTTAAGAATTATGCTAAA TTGACTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCT GAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGATC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp2 HG02723.hp2 others(4): Show HG02257.hp2 HG02615.hp2 HG02723.hp2 HG02886.hp2 HG02970.hp2 HG03098.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0165 others(4): Show a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0300	7	344	0.0203	-187	c.251 others(17): Show c.251-6352_251-6166del	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	2/32			chr22	TogoVar
COMMD10_chr5_116080025_116298287	116129509	ATACTAAT others(180): Show ATACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATA TACATTAGTATATATATACTATATACTAATGTAATATACATTAGTATATA TATACTATATACTAATGTAATATACATTAGTATATATATACTATATACTA ATGTAATATACATTAGTATATATATACTATATACTATG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	348	0.0029	-187	c.400 others(17): Show c.400-4556_400-4370del	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
DHRS12_chr13_51762993_51809163	51775390	TCTCCTAC others(180): Show TCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACAT GTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTA TTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGT ATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA20129.hp2 HG00323.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0293 a0001c0001t0002g0264 a0001c0001t0002g0293	2	340	0.0059	-187	c.363 others(17): Show c.363+1483_364-1357del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DOCK10_chr2_224760090_225047468	225018487	CATATATA others(180): Show CATATATATATAATATATATGTAATATTATATATATATAATATATATGTA ATATTATATATATATAATATATATGTAATATTATATATATATAATATATA TGTAATATTATATATATATAATATATATGTAATATTATATATATAATATA TATGTAATATTATATATATATAATATATATGTAATATT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	61	0.0164	-187	c.123 others(19): Show c.123+23578_123+23764del	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DUSP8_chr11_1549051_1577271	1551655	CCATCTGC others(180): Show CCATCTGCCCATCCATCCATCCATCCACCCACCCATCCACCCCACTCATC CCTCTACCCATTCATCCATCTGCCCATCCATCCATCCATCCACCCACCCC ATTCATCCCTCTACCCATTCATCCATCTGCCCATCCATCCATCCGTCCAC CCACCTGCCCACCCCACTCATCCCTCTACCCATTCATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02615.hp1 HG02717.hp2 others(1): Show HG01346.hp2 HG02615.hp1 HG02717.hp2 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0019 a0001c0003t0002g0019	4	366	0.0109	-187	c.46 others(11): Show c.4676_*4862del	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		2395		chr11	TogoVar
EFNB2_chr13_106484745_106540662	106510589	CGTACCAC others(180): Show CGTACCACGACCTTCTTTCTCCCACCCCACCTAGGGGCATTAACCTTCTT AATAAATGCATCTGATCAGTTTCAGTTGCCTGTAAATGTCATGCCTAACA GTAGCTTTCACTGAAAAAGTCTTACTTTAAAAGTCTTTACTAAGGCCAGG CGCGGTGGCTCACGCCTGGAATCCCAGTACTTTGGGAG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp2 HG02258.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0217 a0001c0001t0017g0221 a0001c0001t0017g0217 a0001c0001t0017g0221	2	354	0.0056	-187	c.406 others(17): Show c.406+1753_406+1939del	EFNB2	ENSG00000125266.8	transcript	ENST00000646441.1	protein_coding	2/4			chr13	TogoVar
EHMT1_chr9_137614005_137841127	137818595	GGCGCCAT others(180): Show GGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGA GGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0044 a0001c0022t0001g0044	1	151	0.0066	-187	c.354 others(17): Show c.3540+459_3540+645del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
F7_chr13_113100791_113125685	113108649	GGGAGTGT others(180): Show GGGAGTGTGGGTGTTCCAGAGGCGAGGGTATCCCAGAAGTGTGAGTGTCC CGGGGGTGTGGGTGTCCCGGGGGTCGTGGGTGTCCCGGGAGTGTGGGTGT TCCAGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCAGGGGTGTGGGTG TCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0015 a0002c0010t0015	a0002c0010t0015g0084 a0002c0010t0015g0084	1	398	0.0025	-187	c.65- others(15): Show c.65-2038_65-1852del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAM178B_chr2_96870885_96991580	96979542	CTTAGGTT others(180): Show CTTAGGTTGATTCCATAACTTTGCTATTGTGACTAGTGCTGTGATAAACA TATGAGTGCAAGTGTCGTTTTGATATAACAATTTATCTTCCTTCAGGAAG ATACCCAGTAGTGGGATTGGTGGGTTGAATGGTAGTTCTGTTTTTAGTTC TTTGAGAAATCTCCATACTGTTTCACATAAAGGTTTGA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0087 a0006c0007t0002g0087	1	248	0.0040	-187	c.73+ others(15): Show c.73+6512_73+6698del	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	1/16			chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805369	TCCCCCCT others(180): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	263	0.0038	-187	c.12 others(11): Show c.1204_*1390del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1083		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806535	CTCCCCCC others(180): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG03486.hp2 NA18906.hp2 others(1): Show HG00673.hp1 HG03486.hp2 NA18906.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0014 a0001c0001 a0002c0014	a0001c0001t0001 a0002c0014t0002 a0001c0001t0001 a0002c0014t0002	a0001c0001t0001g0144 a0001c0001t0001g0167 a0001c0001t0001g0193 others(1): Show a0001c0001t0001g0144 a0001c0001t0001g0167 a0001c0001t0001g0193 a0002c0014t0002g0014	4	279	0.0143	-187	c.23 others(11): Show c.2370_*2556del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2249		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806592	GACCTCCG others(180): Show GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	305	0.0033	-187	c.24 others(11): Show c.2427_*2613del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2306		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806896	GACCTCCG others(180): Show GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	303	0.0033	-187	c.27 others(11): Show c.2731_*2917del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2610		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807896	TCCCCCCT others(180): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACTCTCCCCTCTTAGCCCAGGGACCTCGGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	306	0.0033	-187	c.37 others(11): Show c.3731_*3917del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3610		chr2	TogoVar
GTPBP4_chr10_983434_1024932	1011037	GCTCTGCT others(180): Show GCTCTGCTGTGCTGGGCCCTTCATTCTCCTGCATCCCTCCATCCTGACTG TGCCTCCTGCACCTCTTCCCCCCACCCCGAGACTCTGGTGGAGATGCTGG GCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTGTGCCCCCTGCACCA CCTTCCCCACCCTGTATCTCCGCCAGGCCCTTAATGGA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18940.hp1 NA18953.hp1 others(5): Show HG02523.hp1 NA18940.hp1 NA18953.hp1 NA18979.hp1 NA19005.hp2 NA19082.hp2 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0013 a0001c0002t0002g0116 a0001c0002t0002g0119 others(3): Show a0001c0002t0002g0013 a0001c0002t0002g0116 a0001c0002t0002g0119 a0001c0002t0002g0127 a0001c0002t0002g0130 a0001c0002t0005g0068	8	363	0.0220	-187	c.134 others(17): Show c.1344+532_1344+718del	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737632	TATTCTAT others(180): Show TATTCTATAGAATATTCTATATTATATTCTATATTATATTCTATATTTTC TATATTATATTCTATATAATATTCTATATTATATTCTATATAATATTCTA TATTATATTCTATATAATATTCTATATTATATTCTATATAATATTCTATA TTATATTCTATATAATATTCTATATTATATTCTATATA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0001 a0003c0023t0001	a0003c0023t0001g0362 a0003c0023t0001g0362	1	370	0.0027	-187	c.195 others(17): Show c.1958-986_1958-800del	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
IYD_chr6_150364012_150410969	150372318	TGGGTGGG others(180): Show TGGGTGGGGTGGGGGGTGGTGAGGGAACATTGTGTGTCCATGCTTATTAG ACATGTGTGTGTGGGGGTGGGGTGGGGAGTGCTGAGGGGTCATGTTGTGT CCATGCTTATTAGACATGTGTGTGTGTGGGTGGGGTGGGGGGTGGTGAGG GAACATTGTGTGTCCATGCTTATTAGACATGTGTGTGG	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0134 a0001c0001t0007g0134	1	411	0.0024	-187	c.178 others(17): Show c.178+3113_178+3299del	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	62122712	ACCTGAAA others(180): Show ACCTGAAAGTGGACAGCTGCCGCAGCACTACAGCCCCCTTTTAGCCAGTG TCCACTCAGGTGAGTGGAGGCCAGTTTTAAACAAGGCCAGTTTCATAAAC ATCATCAGAGTACTTGGAATAAACTGTAATTTTCTTTTAAAAAGGTTTTA TTTTTTCAATTTATTTTATTTTATTTATTTACTTTTTG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01515.hp2 HG02257.hp1 others(22): Show HG01074.hp2 HG01515.hp2 HG02257.hp1 HG02258.hp1 HG02572.hp2 HG02622.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03834.hp2 HG04228.hp1 NA18951.hp2 NA18964.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19086.hp2 NA19090.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0003t0002 a0001c0003t0004 a0001c0003t0007	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0005g0024 others(22): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0005g0024 a0001c0001t0005g0124 a0001c0001t0006g0217 a0001c0001t0006g0222 a0001c0001t0006g0224 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0244 a0001c0001t0012g0023 a0001c0001t0017g0218 a0001c0003t0002g0118 a0001c0003t0002g0119 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0125 a0001c0003t0004g0223 a0001c0003t0004g0225 a0001c0003t0004g0228 a0001c0003t0004g0231 a0001c0003t0007g0188 a0001c0003t0007g0219 a0001c0003t0007g0229 a0001c0003t0007g0230	25	242	0.1033	-187	c.219 others(19): Show c.219+54286_219+54472del	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	2/8			chr6	TogoVar
MROH2A_chr2_233773330_233838418	233790479	TCCTCCCT others(180): Show TCCTCCCTCCCTCCTTCCTTCCTTTCCTTTTTAATTGCCTGCCTTACTTA CTCTTTCCCCTCCCTCCCCCTTTCTTTTTCTCCTTCCTTCCTTCCTTCCT CCCTCCCCTCCCCTTTCCCTCACCTCCCCTCCCTCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG02809.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp2	a0002 a0078 a0080 a0002 a0078 a0080	a0002c0044 a0078c0059 a0080c0060 a0002c0044 a0078c0059 a0080c0060	a0002c0044t0001 a0078c0059t0001 a0080c0060t0001 a0002c0044t0001 a0078c0059t0001 a0080c0060t0001	a0002c0044t0001g0144 a0078c0059t0001g0016 a0080c0060t0001g0015 a0002c0044t0001g0144 a0078c0059t0001g0016 a0080c0060t0001g0015	3	311	0.0096	-187	c.571 others(15): Show c.571+477_571+663del	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTFMT_chr15_64996512_65034639	65033015	ACAAGAAC others(180): Show ACAAGAACCCCTGCTTGTGGCCTAGGAGGCAATGCCACATTTGACCAGGG GAAGGACTGCCACACATAGGTGTCAGCCCAGTGCCAGGGGCAGGAACTGA CCTCAGGGGCACAGTCCAGTGAAGCCTTTTGAGATGCAGTTCCTAGCGAG CCACTCCATGTACTGCCATCGCCTGCCTGTGGTTGTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 NA18955.hp2 NA19063.hp1 others(1): Show HG00408.hp1 NA18955.hp2 NA19063.hp1 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0037 a0002c0002t0003 a0002c0002t0037	a0002c0002t0003g0013 a0002c0002t0003g0059 a0002c0002t0037g0054 a0002c0002t0003g0013 a0002c0002t0003g0059 a0002c0002t0037g0054	4	326	0.0123	-187	c.-35 others(11): Show c.-3589_-3403del	MTFMT	ENSG00000103707.10	transcript	ENST00000220058.9	protein_coding		3377		chr15	TogoVar
MYOM2_chr8_2040046_2150456	2085892	AGTCGTGA others(180): Show AGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCC ACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCC CCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGT GGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0313 a0009c0012t0001g0313	1	265	0.0038	-187	c.164 others(17): Show c.1644+515_1644+701del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085933	CGTGGCCC others(180): Show CGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGA TCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTC GTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18959.hp2 NA18977.hp1 others(2): Show NA18946.hp2 NA18959.hp2 NA18977.hp1 NA19011.hp1 NA19077.hp2	a0003 a0004 a0009 others(2): Show a0003 a0004 a0009 a0018 a0089	a0003c0004 a0004c0051 a0009c0012 others(2): Show a0003c0004 a0004c0051 a0009c0012 a0018c0018 a0089c0210	a0003c0004t0002 a0004c0051t0002 a0009c0012t0001 others(2): Show a0003c0004t0002 a0004c0051t0002 a0009c0012t0001 a0018c0018t0001 a0089c0210t0001	a0003c0004t0002g0147 a0004c0051t0002g0287 a0009c0012t0001g0049 others(2): Show a0003c0004t0002g0147 a0004c0051t0002g0287 a0009c0012t0001g0049 a0018c0018t0001g0223 a0089c0210t0001g0153	5	383	0.0131	-187	c.164 others(17): Show c.1644+552_1644+738del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64235116	GGATGGTC others(180): Show GGATGGTCATGATGGGTGACCCTGGGCTGGCTGAGTGACCCTGGGCTGGC CGTGGTATGTGACCCGGGGCTGGCCGTGGTATGTGACCCCGGGATGGTCA TGGTGTGTGACCCGGGGCTGGCCGTGGTATGTGACCCCGGGATGGTCATG GTGTGTGACCCGGGGCTGGCCATGGTGGGTGACCCCGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG02630.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0054 a0001c0001t0001g0059	2	222	0.0090	-187	c.289 others(19): Show c.2898-1437_2898-1251del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NAIP_chr5_70963166_71030339	71001116	GTGGCTCA others(180): Show GTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCAAGGCAGGAGGAT TACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCATGATCTCGCCACTG CCCTCCAGCCTGGATGACCATGTCTCAAAAAAAATAGAAAGAAAAGAAAA CGAATCTATAAGAAATGCTGAAGAGAGGCCTGGCGCGA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0081 a0001c0001t0025g0081	1	140	0.0071	-187	c.922 others(15): Show c.922+395_922+581del	NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding	8/16			chr5	TogoVar
NEU4_chr2_241804193_241822413	241805369	TCCCCCCT others(180): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 NA19057.hp1 HG02145.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0003g0096 a0001c0001t0001g0009 a0001c0001t0003g0096	2	266	0.0075	-187	c.-39 others(11): Show c.-3908_-3722del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3823		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805542	GACCTCCG others(180): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0163 a0002c0003t0002g0163	1	298	0.0034	-187	c.-37 others(11): Show c.-3735_-3549del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3650		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806535	CTCCCCCC others(180): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 NA18522.hp1 HG00673.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0094 a0001c0001t0001g0001 a0001c0001t0003g0094	2	289	0.0069	-187	c.-27 others(11): Show c.-2742_-2556del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2657		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806592	GACCTCCG others(180): Show GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19068.hp2 NA19003.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0002 a0001c0001t0001 a0002c0008t0002	a0001c0001t0001g0041 a0002c0008t0002g0136 a0001c0001t0001g0041 a0002c0008t0002g0136	2	311	0.0064	-187	c.-26 others(11): Show c.-2685_-2499del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2600		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807896	TCCCCCCT others(180): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACTCTCCCCTCTTAGCCCAGGGACCTCGGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0112 a0001c0005t0001g0112	1	314	0.0032	-187	c.-13 others(11): Show c.-1381_-1195del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1296		chr2	TogoVar
NOL10_chr2_10565754_10694975	10587074	TATACATA others(180): Show TATACATATATATACATATATATACACATATATATACATATATATACATA TATATACATATATACACATATATATACATATATACACATATATACACATA TATATACACATATATATACACATATATATACACATATATATATACATATA TATACATATATATATACATACATATATATATATACACA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03486.hp2 HG02615.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0004 a0001c0001t0001g0013	2	364	0.0055	-187	c.184 others(19): Show c.1844+1782_1844+1968del	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
PIAS4_chr19_4002736_4044386	4011658	TGGTGTGG others(180): Show TGGTGTGGAGGTGTGGGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGG	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	292	0.0034	-187	c.28- others(15): Show c.28-1250_28-1064del	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PSMB7_chr9_124348465_124420442	124396955	ATCTTGCC others(180): Show ATCTTGCCTAGCTTTTAACAATCAAATGAATCGATCACCAGTAGCCTCTT CCAAATTACTCTCTTAAAAAAGAAGTAAATGAAACCGACGGGATCCTTTT TCTTTTTGGAGAATAAGCCACATGCCATGTACCAACAGGAAAAAGTCAGA AACTGAGGTTCCCATTCTCACTCACATACTTCCTTACT	A A	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	406	0.0025	-187	c.511 others(17): Show c.511+8175_511+8361del	PSMB7	ENSG00000136930.13	transcript	ENST00000259457.8	protein_coding	5/7			chr9	TogoVar
RAB3IP_chr12_69733860_69828199	69807333	TTCACCTC others(180): Show TTCACCTCCCAGACAGGGCGGCAGGGCAGAGGCGCTTCCCACCTCCCTGA CGGGGCGGCCGGGAAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCCGGG CGGAGGCGCTCCTCACATCCCAGACAGGACGGCTGGGCAGAGGCGCTCCT CACTTCCCAGACGACGGGCGGCCGGGCAGAGGCACTCC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18998.hp2 NA19057.hp1 others(1): Show HG00609.hp2 NA18998.hp2 NA19057.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0126 a0001c0001t0127 a0001c0001t0004 a0001c0001t0126 a0001c0001t0127	a0001c0001t0004g0179 a0001c0001t0004g0207 a0001c0001t0126g0184 others(1): Show a0001c0001t0004g0179 a0001c0001t0004g0207 a0001c0001t0126g0184 a0001c0001t0127g0198	4	400	0.0100	-187	c.113 others(19): Show c.1131-5427_1131-5241del	RAB3IP	ENSG00000127328.22	transcript	ENST00000247833.12	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RIMS1_chr6_71881550_72408145	72152952	GTATATAT others(180): Show GTATATATATGGAATATATGTATATATATGTATATATGGAATATATGTTT ATATATGTATATATATGTGTGTGTGTATATATGTGTGTGTGTGTATATAT ATGTATATATTCCCTATGTATATATATGGAATATATGTATATATTCCCTA TGTATATATATGGAATATATGTATATATTCCCTATGTA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0127 a0001c0003t0004g0127	1	138	0.0072	-187	c.472 others(19): Show c.472-26615_472-26429del	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNASE8_chr14_21052822_21063455	21057238	CAGCCTGA others(180): Show CAGCCTGACCAACATGGAGAAACCCAGTCTCTACTAAAAATAGAAAAAAT TAGCTAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAG ATCGCGCCATTGCACTCCAGCATGGGCGACAAGAGCGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	446	0.0022	-187	c.-65 others(9): Show c.-654_-468del	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		583		chr14	TogoVar
RNF213_chr17_80255852_80403794	80315480	ATGGAGGT others(180): Show ATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGA GGTACTGGAGGTGATGGTGGTCGTGGAGGTGATGGTGGAGGTAATGGAGG TGATGGTGGTGGTGGTGGTGGTACTGGAGGTGATGGTGGTCCGTGGAGGT GATGGTGGTGGTGGTAATGGAGGTGATGGTGGTGGTAC	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0022 a0022	a0022c0022 a0022c0022	a0022c0022t0003 a0022c0022t0003	a0022c0022t0003g0169 a0022c0022t0003g0169	1	228	0.0044	-187	c.281 others(19): Show c.2812-1699_2812-1513del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar

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