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
SMYD4_chr17_1774485_1834902	1794105	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02698.hp2 HG02572.hp2 HG02698.hp2	a0009 a0010 a0009 a0010	a0009c0009 a0010c0012 a0009c0009 a0010c0012	a0009c0009t0009 a0010c0012t0002 a0009c0009t0009 a0010c0012t0002	a0009c0009t0009g0368 a0010c0012t0002g0355 a0009c0009t0009g0368 a0010c0012t0002g0355	2	390	0.0051	18	c.153 others(37): Show c.1537+5751_1537+5752insAAAAAAAAAAAATATATA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SMYD4_chr17_1774485_1834902	1824280	T T	TTGCAGTG others(11): Show TTGCAGTGAGCTGAGACAG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0369 a0002c0002t0002g0369	1	390	0.0026	18	c.134 others(35): Show c.134+3580_134+3581insCTGTCTCAGCTCACTGCA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	2/10			chr17	TogoVar
SNAI1_chr20_49977980_49993886	49978472	C C	CATACATA others(11): Show CATACATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	440	0.0023	18	c.-45 others(29): Show c.-4588_-4587insATACATATATATATATAT	SNAI1	ENSG00000124216.4	transcript	ENST00000244050.3	protein_coding		4507		chr20	TogoVar
SNAI1_chr20_49977980_49993886	49978472	C C	CATATATA others(11): Show CATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00673.hp1 others(19): Show HG00408.hp2 HG00558.hp2 HG00673.hp1 HG01070.hp1 HG01071.hp1 HG02040.hp1 HG02071.hp1 HG02132.hp1 HG02698.hp2 HG03239.hp2 HG03654.hp2 HG04115.hp1 HG06807.hp1 NA18950.hp1 NA18952.hp2 NA18957.hp1 NA18981.hp1 NA18983.hp1 NA19068.hp2 NA19080.hp1 NA19088.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0003g0029 others(3): Show a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0003g0029 a0001c0001t0009g0001 a0002c0002t0002g0005 a0002c0002t0002g0022	22	440	0.0500	18	c.-45 others(29): Show c.-4588_-4587insATATATATATATATATAT	SNAI1	ENSG00000124216.4	transcript	ENST00000244050.3	protein_coding		4507		chr20	TogoVar
SNAI3_chr16_88672688_88691507	88689672	C C	CGAGGCAG others(11): Show CGAGGCAGACATCCATGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	400	0.0025	18	c.-32 others(29): Show c.-3267_-3266insCGCATGGATGTCTGCCTC	SNAI3	ENSG00000185669.6	transcript	ENST00000332281.6	protein_coding		3166		chr16	TogoVar
SNAP23_chr15_42490634_42538058	42525451	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0228 a0001c0002t0003g0228	1	308	0.0033	18	c.267 others(35): Show c.267-2798_267-2781dupTTTTTTTTTTTTTTTTTT	SNAP23	ENSG00000092531.10	transcript	ENST00000249647.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNAP25_chr20_10213830_10312418	10217311	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	340	0.0029	18	c.-17 others(29): Show c.-1730_-1729insTGTGTGTGTGTGTGTGTG	SNAP25	ENSG00000132639.15	transcript	ENST00000254976.7	protein_coding		1518		chr20	TogoVar
SNAP25_chr20_10213830_10312418	10238905	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp2 HG02109.hp2 others(24): Show HG01109.hp1 HG01261.hp2 HG02109.hp2 HG02155.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03579.hp1 NA18940.hp1 NA18964.hp2 NA18966.hp1 NA19000.hp1 NA19084.hp1 NA19091.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0292 others(24): Show a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0305 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0307 a0001c0001t0002g0311 a0001c0001t0004g0298 a0001c0001t0004g0301 a0001c0001t0004g0306 a0001c0001t0005g0291 a0001c0001t0011g0264 a0001c0002t0001g0278 a0001c0002t0001g0283 a0001c0002t0001g0290 a0001c0002t0001g0293 a0001c0002t0001g0297 a0001c0002t0001g0304 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0313 a0001c0002t0001g0315 a0001c0002t0002g0303	27	340	0.0794	18	c.-64 others(37): Show c.-64+19936_-64+19953dupATAATAATAATAATAATA	SNAP25	ENSG00000132639.15	transcript	ENST00000254976.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNAP29_chr22_20854007_20896214	20888311	T T	TCACACAC others(11): Show TCACACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp2 NA19030.hp2 NA19240.hp1 HG03195.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067	a0001c0001t0065g0330 a0001c0001t0066g0200 a0001c0001t0067g0025 a0001c0001t0065g0330 a0001c0001t0066g0200 a0001c0001t0067g0025	3	382	0.0079	18	c.50 others(27): Show c.503_*520dupACACACACACACACACAC	SNAP29	ENSG00000099940.12	transcript	ENST00000215730.12	protein_coding	5/5	521	INFO_REALIGN_3_PRIME	chr22	TogoVar
SNAP47_chr1_227730435_227786226	227774417	A A	ACCCACCG others(11): Show ACCCACCGGGAGAGTGAGG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	396	0.0025	18	c.111 others(37): Show c.1114-6108_1114-6091dupCCACCGGGAGAGTGAGGC	SNAP47	ENSG00000143740.15	transcript	ENST00000617596.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNAP91_chr6_83547885_83714101	83556340	G G	GGAGAGGG others(11): Show GGAGAGGGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	366	0.0027	18	c.263 others(33): Show c.2632-96_2632-95insTCTCTCTCTCTCCCTCTC	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	28/29			chr6	TogoVar
SNAP91_chr6_83547885_83714101	83556340	G G	GGAGAGGG others(11): Show GGAGAGGGAGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02970.hp2 HG02572.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0021 a0001c0004 a0001c0021	a0001c0004t0001 a0001c0021t0001 a0001c0004t0001 a0001c0021t0001	a0001c0004t0001g0118 a0001c0021t0001g0320 a0001c0004t0001g0118 a0001c0021t0001g0320	2	366	0.0055	18	c.263 others(33): Show c.2632-96_2632-95insTCTCTCCCTCTCCCTCTC	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	28/29			chr6	TogoVar
SNAP91_chr6_83547885_83714101	83610710	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03139.hp2 HG01109.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0093 a0001c0001t0001g0094	2	366	0.0055	18	c.885 others(31): Show c.885-51_885-34dupATATATATATATATATAT	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	11/29			chr6	TogoVar
SNAP91_chr6_83547885_83714101	83628222	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18612.hp1 NA20129.hp2 HG03041.hp1 NA18612.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0253 a0001c0001t0001g0324 a0001c0001t0001g0325	3	366	0.0082	18	c.766 others(35): Show c.766-4898_766-4881dupATATATATATATATATAT	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	8/29			chr6	TogoVar
SNAP91_chr6_83547885_83714101	83675827	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00673.hp2 others(11): Show HG00099.hp1 HG00558.hp2 HG00673.hp2 HG02145.hp1 HG02145.hp2 HG02273.hp1 HG02630.hp1 HG02698.hp2 HG02965.hp1 HG03834.hp1 NA18522.hp2 NA18906.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0013 a0001c0022	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0013t0001 a0001c0022t0001	a0001c0001t0001g0135 a0001c0001t0001g0174 a0001c0001t0001g0187 others(11): Show a0001c0001t0001g0135 a0001c0001t0001g0174 a0001c0001t0001g0187 a0001c0001t0001g0207 a0001c0002t0001g0208 a0001c0003t0001g0034 a0001c0003t0001g0037 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0334 a0001c0007t0001g0333 a0001c0013t0001g0055 a0001c0022t0001g0113	14	366	0.0383	18	c.131 others(37): Show c.131-10264_131-10247dupGTGTGTGTGTGTGTGTGT	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	2/29			chr6	TogoVar
SNAPC3_chr9_15417876_15466626	15441378	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	308	0.0033	18	c.478 others(35): Show c.478-3220_478-3219insTTTTTTTTTTTTTTTTTT	SNAPC3	ENSG00000164975.16	transcript	ENST00000380821.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SNCAIP_chr5_122307237_122469219	122351536	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18943.hp1 NA19060.hp2 HG02132.hp1 NA18943.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0159 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0159	3	222	0.0135	18	c.-47 others(37): Show c.-47+39265_-47+39282dupAAAAAAAAAAAAAAAAAA	SNCAIP	ENSG00000064692.20	transcript	ENST00000261368.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SND1_chr7_127647194_128097593	127922199	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02071.hp2 NA19009.hp1 HG01169.hp1 HG02071.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0164	3	262	0.0115	18	c.152 others(37): Show c.1528-6985_1528-6984insTTTTTTTTTTTTTGTTTT	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNED1_chr2_240993618_241100568	241011139	G G	GGGTCTCC others(11): Show GGGTCTCCTGGGGGTGGCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02486.hp1 others(16): Show HG02109.hp2 HG02145.hp1 HG02486.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG06807.hp2 NA18906.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0008 a0009 a0010 a0015 a0020	a0001c0037 a0002c0009 a0002c0010 others(11): Show a0001c0037 a0002c0009 a0002c0010 a0002c0011 a0002c0017 a0002c0021 a0002c0096 a0003c0076 a0008c0032 a0008c0095 a0009c0077 a0010c0016 a0015c0093 a0020c0092	a0001c0037t0020 a0002c0009t0004 a0002c0009t0012 others(15): Show a0001c0037t0020 a0002c0009t0004 a0002c0009t0012 a0002c0010t0016 a0002c0011t0011 a0002c0011t0015 a0002c0017t0014 a0002c0017t0026 a0002c0017t0034 a0002c0021t0014 a0002c0096t0039 a0003c0076t0015 a0008c0032t0021 a0008c0095t0021 a0009c0077t0028 a0010c0016t0024 a0015c0093t0016 a0020c0092t0016	a0001c0037t0020g0030 a0002c0009t0004g0040 a0002c0009t0012g0034 others(16): Show a0001c0037t0020g0030 a0002c0009t0004g0040 a0002c0009t0012g0034 a0002c0010t0016g0033 a0002c0011t0011g0029 a0002c0011t0015g0028 a0002c0017t0014g0041 a0002c0017t0026g0155 a0002c0017t0034g0026 a0002c0021t0014g0327 a0002c0096t0039g0032 a0003c0076t0015g0330 a0008c0032t0021g0328 a0008c0032t0021g0329 a0008c0095t0021g0031 a0009c0077t0028g0039 a0010c0016t0024g0042 a0015c0093t0016g0331 a0020c0092t0016g0035	19	344	0.0552	18	c.213 others(37): Show c.213+12090_213+12091insGTCTCCTGGGGGTGGCAG	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNED1_chr2_240993618_241100568	241024235	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0011 a0002c0011t0011	a0002c0011t0011g0234 a0002c0011t0011g0234	1	344	0.0029	18	c.214 others(35): Show c.214-6037_214-6020dupTTTTTTTTTTTTTTTTTT	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNED1_chr2_240993618_241100568	241036053	T T	TGCGTCAC others(11): Show TGCGTCACGGGGTGGGGGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02976.hp1 HG03492.hp2 others(4): Show HG02109.hp2 HG02976.hp1 HG03492.hp2 HG03579.hp1 NA18522.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0002c0011 others(2): Show a0001c0001 a0001c0002 a0002c0011 a0003c0076 a0008c0032	a0001c0001t0052 a0001c0002t0017 a0002c0011t0011 others(3): Show a0001c0001t0052 a0001c0002t0017 a0002c0011t0011 a0002c0011t0015 a0003c0076t0015 a0008c0032t0021	a0001c0001t0052g0147 a0001c0002t0017g0143 a0002c0011t0011g0128 others(4): Show a0001c0001t0052g0147 a0001c0002t0017g0143 a0002c0011t0011g0128 a0002c0011t0015g0036 a0003c0076t0015g0330 a0008c0032t0021g0328 a0008c0032t0021g0329	7	344	0.0204	18	c.806 others(33): Show c.806-730_806-729insGGGGTGGGGGCGCGTCAC	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNED1_chr2_240993618_241100568	241057380	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02273.hp1 HG03209.hp1 others(1): Show HG02155.hp1 HG02273.hp1 HG03209.hp1 NA19240.hp1	a0002 a0008 a0021 a0002 a0008 a0021	a0002c0003 a0002c0036 a0008c0033 others(1): Show a0002c0003 a0002c0036 a0008c0033 a0021c0070	a0002c0003t0007 a0002c0036t0014 a0008c0033t0016 others(1): Show a0002c0003t0007 a0002c0036t0014 a0008c0033t0016 a0021c0070t0005	a0002c0003t0007g0284 a0002c0036t0014g0326 a0008c0033t0016g0221 others(1): Show a0002c0003t0007g0284 a0002c0036t0014g0326 a0008c0033t0016g0221 a0021c0070t0005g0262	4	344	0.0116	18	c.225 others(37): Show c.2257+4069_2257+4086dupATATATATATATATATAT	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNIP1_chr1_37529449_37559293	37535230	T T	TTATATAT others(11): Show TTATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0203 a0001c0001t0062g0203	1	394	0.0025	18	c.25 others(29): Show c.2517_*2518insTATATATATATATATATA	SNIP1	ENSG00000163877.11	transcript	ENST00000296215.8	protein_coding	4/4	2517		chr1	TogoVar
SNIP1_chr1_37529449_37559293	37536802	T T	TCAACAAC others(11): Show TCAACAACTTTTTAAAGGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0084 a0001c0002t0084	a0001c0002t0084g0071 a0001c0002t0084g0071	1	394	0.0025	18	c.92 others(27): Show c.928_*945dupTCCTTTAAAAAGTTGTTG	SNIP1	ENSG00000163877.11	transcript	ENST00000296215.8	protein_coding	4/4	945		chr1	TogoVar
SNRK_chr3_43281540_43356143	43296415	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03453.hp1 HG00438.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0045 a0001c0001t0014g0023 a0001c0001t0002g0045 a0001c0001t0014g0023	2	258	0.0078	18	c.-16 others(37): Show c.-168-3338_-168-3321dupATATATATATATATATAT	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRK_chr3_43281540_43356143	43339818	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	258	0.0039	18	c.732 others(33): Show c.732-430_732-413dupATATATATATATATATAT	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRPA1_chr15_101276510_101300248	101289925	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00733.hp1 others(10): Show HG00099.hp2 HG00280.hp2 HG00733.hp1 HG01069.hp2 HG01123.hp1 HG01257.hp1 HG01257.hp2 HG01515.hp2 HG02004.hp1 HG03453.hp2 HG03688.hp1 NA18952.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0075 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0124 a0001c0001t0001g0136 a0001c0001t0001g0189 a0001c0002t0001g0198	13	442	0.0294	18	c.309 others(35): Show c.309+2019_309+2036dupTTTTTTTTTTTTTTTTTT	SNRPA1	ENSG00000131876.18	transcript	ENST00000254193.11	protein_coding	3/8			chr15	TogoVar
SNRPA_chr19_40746203_40770389	40756193	T T	TGGGGTGG others(11): Show TGGGGTGGGGGTGGGGGGG	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0257 a0001c0002t0002g0257	1	412	0.0024	18	c.74- others(33): Show c.74-1136_74-1135insGTGGGGGTGGGGGGGGGG	SNRPA	ENSG00000077312.9	transcript	ENST00000243563.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
SNRPA_chr19_40746203_40770389	40769893	C C	CTGAGGCA others(11): Show CTGAGGCAGGAGAATGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02451.hp2 others(7): Show HG01884.hp2 HG02055.hp2 HG02451.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0054 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070	10	412	0.0243	18	c.47 others(29): Show c.4726_*4727insTGAGGCAGGAGAATGGCG	SNRPA	ENSG00000077312.9	transcript	ENST00000243563.8	protein_coding		4505		chr19	TogoVar
SNRPD2_chr19_45682460_45696953	45683036	G G	GAGGATTT others(11): Show GAGGATTTCATGAAGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	438	0.0023	18	c.44 others(29): Show c.4499_*4516dupGCTCCTTCATGAAATCCT	SNRPD2	ENSG00000125743.11	transcript	ENST00000342669.8	protein_coding		4423		chr19	TogoVar
SNRPD3_chr22_24550999_24579971	24561064	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01243.hp1 HG03927.hp2 others(2): Show HG01123.hp2 HG01243.hp1 HG03927.hp2 NA18941.hp2 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0232 a0001c0002t0002g0242 a0001c0002t0002g0243 others(2): Show a0001c0002t0002g0232 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0262 a0001c0002t0010g0244	5	400	0.0125	18	c.126 others(35): Show c.126+3272_126+3289dupTTTTTTTTTTTTTTTTTT	SNRPD3	ENSG00000100028.12	transcript	ENST00000215829.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
SNRPG_chr2_70276362_70298740	70283096	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG01109.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0270 a0001c0001t0001g0112 a0001c0001t0001g0270	2	424	0.0047	18	c.181 others(35): Show c.181-1430_181-1413dupTTTTTTTTTTTTTTTTTT	SNRPG	ENSG00000143977.14	transcript	ENST00000272348.7	protein_coding	3/3			chr2	TogoVar
SNTB2_chr16_69182164_69314052	69199595	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02735.hp1 NA19030.hp1 others(1): Show HG01496.hp2 HG02735.hp1 NA19030.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0039 a0001c0002t0004 a0001c0002t0018 others(1): Show a0001c0001t0039 a0001c0002t0004 a0001c0002t0018 a0001c0002t0030	a0001c0001t0039g0053 a0001c0002t0004g0045 a0001c0002t0018g0036 others(1): Show a0001c0001t0039g0053 a0001c0002t0004g0045 a0001c0002t0018g0036 a0001c0002t0030g0035	4	218	0.0184	18	c.580 others(37): Show c.580+11865_580+11866insAAAAAAAAAAAAAAAAAA	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTB2_chr16_69182164_69314052	69279515	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0027 a0001c0002t0024g0027	1	218	0.0046	18	c.114 others(37): Show c.1149-4522_1149-4505dupTTTTTTTTTTTTTTTTTT	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTG1_chr8_49906407_50801692	50053623	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02809.hp1 HG02976.hp2 others(5): Show HG01071.hp1 HG02809.hp1 HG02976.hp2 HG03017.hp1 HG03139.hp2 NA18952.hp1 NA18992.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0030 a0001c0001t0035 a0001c0001t0040 a0001c0002t0003	a0001c0001t0002g0042 a0001c0001t0003g0019 a0001c0001t0004g0102 others(5): Show a0001c0001t0002g0042 a0001c0001t0003g0019 a0001c0001t0004g0102 a0001c0001t0007g0037 a0001c0001t0030g0053 a0001c0001t0035g0031 a0001c0001t0040g0005 a0001c0002t0003g0041	8	106	0.0755	18	c.-10 others(41): Show c.-102-118920_-102-118903dupGTGTGTGTGTGTGTGTGT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50376756	T T	TATATATA others(11): Show TATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0012 a0001c0002t0010g0012	1	106	0.0094	18	c.-27 others(37): Show c.-27-17455_-27-17454insTATATATAGAGAGAGAGA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50541243	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	106	0.0094	18	c.680 others(35): Show c.680+4452_680+4469dupTGTGTGTGTGTGTGTGTG	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50550693	G G	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp1 HG02897.hp2 HG02451.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0026 a0001c0001t0006g0051 a0001c0001t0006g0066 a0001c0001t0002g0026 a0001c0001t0006g0051 a0001c0001t0006g0066	3	106	0.0283	18	c.681 others(35): Show c.681-2356_681-2355insGTGTGTGTATATATATAT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50570591	G G	GTTGTTAT others(11): Show GTTGTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0044 a0001c0005t0019g0044	1	106	0.0094	18	c.810 others(37): Show c.810+17414_810+17415insGTTATTATTATTATTATT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50601152	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0052 a0001c0001t0032g0052	1	106	0.0094	18	c.849 others(37): Show c.849+10250_849+10267dupAAAAAAAAAAAAAAAAAA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50701579	T T	TTTCTTCT others(11): Show TTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03540.hp2 NA19085.hp1 HG03041.hp2 HG03540.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0001c0001t0024 a0002c0003t0018 a0001c0001t0005 a0001c0001t0024 a0002c0003t0018	a0001c0001t0005g0021 a0001c0001t0024g0058 a0002c0003t0018g0045 a0001c0001t0005g0021 a0001c0001t0024g0058 a0002c0003t0018g0045	3	106	0.0283	18	c.103 others(37): Show c.1039-3015_1039-3014insTTCTTCTTCTTCTTCTTC	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	948493	C C	CATATATA others(11): Show CATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0046 a0013c0018t0001g0046	1	190	0.0053	18	c.-25 others(29): Show c.-2504_-2503insATATATATATATATATAT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding		2355		chr2	TogoVar
SNTG2_chr2_945849_1372613	965561	T T	TTCTGTGG others(11): Show TTCTGTGGTCCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03471.hp1 NA20129.hp1 HG03225.hp1 HG03471.hp1 NA20129.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0002 a0004c0014 a0005c0006 a0001c0002 a0004c0014 a0005c0006	a0001c0002t0002 a0004c0014t0002 a0005c0006t0002 a0001c0002t0002 a0004c0014t0002 a0005c0006t0002	a0001c0002t0002g0002 a0004c0014t0002g0001 a0005c0006t0002g0003 a0001c0002t0002g0002 a0004c0014t0002g0001 a0005c0006t0002g0003	3	190	0.0158	18	c.72+ others(35): Show c.72+14501_72+14518dupTCCCCTCCTCCTCTGTGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	996673	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02109.hp1 HG02647.hp1	a0007 a0013 a0007 a0013	a0007c0017 a0013c0018 a0007c0017 a0013c0018	a0007c0017t0001 a0013c0018t0001 a0007c0017t0001 a0013c0018t0001	a0007c0017t0001g0118 a0013c0018t0001g0045 a0007c0017t0001g0118 a0013c0018t0001g0045	2	190	0.0105	18	c.72+ others(35): Show c.72+45619_72+45636dupTTTTTTTTTTTTTTTTTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221774	T T	TCTGTCTC others(11): Show TCTGTCTCTCTCTTTGTCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03471.hp1 NA18990.hp2 HG02922.hp2 HG03471.hp1 NA18990.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0006 a0008c0011 a0001c0001 a0005c0006 a0008c0011	a0001c0001t0001 a0005c0006t0002 a0008c0011t0001 a0001c0001t0001 a0005c0006t0002 a0008c0011t0001	a0001c0001t0001g0102 a0005c0006t0002g0003 a0008c0011t0001g0004 a0001c0001t0001g0102 a0005c0006t0002g0003 a0008c0011t0001g0004	3	190	0.0158	18	c.719 others(37): Show c.719+12546_719+12547insGTCTCTCTCTTTGTCCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222041	C C	CTGTTTCT others(11): Show CTGTTTCTCTCTGTCTCTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	190	0.0053	18	c.719 others(37): Show c.719+12812_719+12813insGTTTCTCTCTGTCTCTGT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222079	G G	GTCTCTGT others(11): Show GTCTCTGTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03579.hp1 HG02976.hp1 HG03579.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0047 a0004c0004t0001g0116 a0004c0004t0001g0047 a0004c0004t0001g0116	2	190	0.0105	18	c.719 others(37): Show c.719+12855_719+12872dupGTCTCTCTCTGTCTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222115	G G	GTCTCTGT others(11): Show GTCTCTGTCTCTGTCTCTC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0162 a0006c0010t0001g0162	1	190	0.0053	18	c.719 others(37): Show c.719+12890_719+12891insGTCTCTGTCTCTCTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1336798	A A	ATTCTGTT others(11): Show ATTCTGTTTTTGTCTATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00735.hp2 others(8): Show HG00140.hp1 HG00323.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01361.hp2 HG01496.hp2 HG02280.hp1 HG03490.hp1 HG03654.hp2 NA20905.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0011c0020 a0001c0001 a0001c0002 a0011c0020	a0001c0001t0001 a0001c0002t0001 a0011c0020t0001 a0001c0001t0001 a0001c0002t0001 a0011c0020t0001	a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0056 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0090 a0001c0001t0001g0141 a0001c0002t0001g0017 a0001c0002t0001g0186 a0011c0020t0001g0142 a0011c0020t0001g0143	11	190	0.0579	18	c.148 others(39): Show c.1488+20433_1488+20450dupTGTCTATATTTCTGTTTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX10_chr7_26286862_26379383	26291922	T T	TGCGCGGG others(11): Show TGCGCGGGGAGCGCGGGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp1 HG01928.hp1 HG02004.hp1 others(9): Show HG00438.hp1 HG01928.hp1 HG02004.hp1 HG02080.hp1 HG02293.hp1 HG02486.hp1 HG03927.hp1 NA18941.hp1 NA18973.hp2 NA18991.hp1 NA18993.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0025 others(2): Show a0001c0001t0007 a0001c0001t0016 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027	a0001c0001t0007g0001 a0001c0001t0007g0011 a0001c0001t0007g0013 others(9): Show a0001c0001t0007g0001 a0001c0001t0007g0011 a0001c0001t0007g0013 a0001c0001t0007g0018 a0001c0001t0007g0023 a0001c0001t0007g0043 a0001c0001t0007g0051 a0001c0001t0016g0017 a0001c0001t0016g0229 a0001c0001t0025g0014 a0001c0001t0026g0375 a0001c0001t0027g0113	12	390	0.0308	18	c.-17 others(27): Show c.-170_-153dupAGCGCGGGGAGCGCGGGG	SNX10	ENSG00000086300.17	transcript	ENST00000338523.9	protein_coding	1/7	54485	INFO_REALIGN_3_PRIME	chr7	TogoVar

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