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
SLC28A1_chr15_84879662_84950798	84928551	T T	TTTCTTTC others(93): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC C	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0219 a0003c0001t0002g0219	1	364	0.0027	100	c.108 others(119): Show c.1083+4485_1083+4486insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928555	T T	TTTCTTTC others(93): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTC TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0093 a0003c0001t0001g0093	1	377	0.0027	100	c.108 others(119): Show c.1083+4485_1083+4486insCTCTCTCTCTCTTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC35F1_chr6_117902264_118322671	117923608	C C	CATATATG others(93): Show CATATATGTACATATGTGCATATATACATATGTATATATACATATATGTA CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp2 HG02572.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0032 a0001c0001t0008 a0001c0001t0032	a0001c0001t0008g0117 a0001c0001t0032g0118 a0001c0001t0008g0117 a0001c0001t0032g0118	2	93	0.0215	100	c.173 others(119): Show c.173+15714_173+15715insTGTACATATGTGCATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATACA TATATGTACATATGTACATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(93): Show ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATGTACATATGTATATATGCATATATGTACATATGTACATAT G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0114 a0002c0002t0005g0114	1	155	0.0065	100	c.173 others(119): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATGTACATATGTATATATGCA TATATGTACATATGTACATATGTA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117924466	A A	ATATATAC others(93): Show ATATATACATATGTATATACGTATATACATATGTATATACGTATATACAT ATGTATATACGTATATACATATGTATATACGTATATACATATGTATATAC G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp2 HG02572.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0032 a0001c0001t0008 a0001c0001t0032	a0001c0001t0008g0117 a0001c0001t0032g0118 a0001c0001t0008g0117 a0001c0001t0032g0118	2	20	0.1000	100	c.173 others(119): Show c.173+16618_173+16619insGTATATACGTATATACATATGTATAT ACGTATATACATATGTATATACGTATATACATATGTATATACGTATATAC ATATGTATATACGTATATACATAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118070906	A A	ATATACAT others(93): Show ATATACATAGTAAATATATATACTATATATACATAGTAAATATATATACT ATATATACATAGTAAATATATATACTATATATACATAGTAAATATATATA C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	166	0.0060	100	c.174 others(119): Show c.174-83535_174-83534insCATAGTAAATATATATACTATATATA CATAGTAAATATATATACTATATATACATAGTAAATATATATACTATATA TACATAGTAAATATATATACTATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118070991	C C	CGTATATA others(93): Show CGTATATATATACACATAGTATATATATTCTACGTATATATATACACATA GTATATATATTCTACGTATATGTATACACATAGTATATATATTCTACGTG T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03209.hp1 HG01081.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0123 a0001c0001t0005g0046 a0001c0001t0001g0123 a0001c0001t0005g0046	2	130	0.0154	100	c.174 others(119): Show c.174-83452_174-83451insATATATATACACATAGTATATATATT CTACGTATATATATACACATAGTATATATATTCTACGTATATGTATACAC ATAGTATATATATTCTACGTGTGT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(93): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAGAGAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	3	0.3333	100	c.274 others(117): Show c.274-8214_274-8213insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCTTTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC45A4_chr8_141202174_141313288	141203213	G G	GGAGAGGG others(93): Show GGAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGACCGT GGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0096 a0002c0001t0001g0096	1	172	0.0058	100	c.83 others(111): Show c.8358_*8359insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCCTCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCCCTCTCTCCACGG TCTCCCTCTCCCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3960		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203213	G G	GGAGAGGG others(93): Show GGAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGACCGT GGAGAGAGAGAGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0093 a0002c0001t0001g0093	1	172	0.0058	100	c.83 others(111): Show c.8358_*8359insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCC TCCCTCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCCCTCTCTCCACGG TCTCCCTCTCCCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3960		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203284	A A	AGAGAGAG others(93): Show AGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACC GTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0097 a0002c0001t0001g0097	1	128	0.0078	100	c.82 others(111): Show c.8287_*8288insCCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CCACGGTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3889		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203284	A A	AGAGAGAG others(93): Show AGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG02040.hp2 others(2): Show HG00099.hp2 HG00544.hp2 HG02040.hp2 HG02083.hp1 NA18960.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0002c0001 a0003c0002	a0002c0001t0001 a0003c0002t0017 a0002c0001t0001 a0003c0002t0017	a0002c0001t0001g0032 a0002c0001t0001g0070 a0002c0001t0001g0075 others(2): Show a0002c0001t0001g0032 a0002c0001t0001g0070 a0002c0001t0001g0075 a0002c0001t0001g0124 a0003c0002t0017g0171	5	132	0.0379	100	c.82 others(111): Show c.8287_*8288insCCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CCACGGTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3889		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203284	A A	AGAGAGAG others(93): Show AGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0152 a0002c0001t0001g0152	1	128	0.0078	100	c.82 others(111): Show c.8287_*8288insCCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC ACGGTCTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3889		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203370	A A	AGAGGGAG others(93): Show AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGACCG TGGAGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGAGAGAGGGAGAGAG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0013	a0002c0001t0013g0135 a0002c0001t0013g0135	1	168	0.0060	100	c.82 others(111): Show c.8201_*8202insCCTCTCTCCCTCTCTCTCTCTCTCTCCACGGTCT CCCTCTCCCTCTCTCCACGGTCTCTCTCTCCCTCTCTCCCTCTCTCCCTC TCTCCCTCTCTCCCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3803		chr8	TogoVar
SLC5A12_chr11_26662020_26727060	26669187	T T	TTTTCTTT others(93): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0121 a0001c0007t0121	a0001c0007t0121g0343 a0001c0007t0121g0343	1	63	0.0159	100	c.19 others(111): Show c.1914_*1915insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAAAGAAA	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	15/15	1914		chr11	TogoVar
SLC6A3_chr5_1387794_1450440	1423357	C C	CTGCTGGG others(93): Show CTGCTGGGTACCCACTGCTGCCCAGTGCTGCCCACGGTGCTGGGTACCCA CCGCTGCCCACAGTGCTGCCCACAGTGCTGGGTACCCACCGCTGCCCACA G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG01070.hp1 others(45): Show HG00544.hp1 HG00673.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01361.hp2 HG01433.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp2 HG02083.hp1 HG02148.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03486.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp1 NA18612.hp2 NA18952.hp2 NA18956.hp1 NA18964.hp2 NA18978.hp1 NA19010.hp2 NA19012.hp2 NA19070.hp2 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 others(2): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014 a0001c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0030 a0001c0002t0002 a0001c0002t0004 a0001c0013t0024 a0001c0014t0006 a0001c0020t0006	a0001c0001t0001g0063 a0001c0001t0001g0121 a0001c0001t0001g0269 others(43): Show a0001c0001t0001g0063 a0001c0001t0001g0121 a0001c0001t0001g0269 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0001g0320 a0001c0001t0001g0325 a0001c0001t0001g0334 a0001c0001t0001g0337 a0001c0001t0001g0348 a0001c0001t0002g0127 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0302 a0001c0001t0002g0308 a0001c0001t0002g0313 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0336 a0001c0001t0002g0341 a0001c0001t0002g0346 a0001c0001t0004g0074 a0001c0001t0004g0188 a0001c0001t0004g0344 a0001c0001t0006g0343 a0001c0001t0010g0361 a0001c0001t0030g0312 a0001c0002t0002g0316 a0001c0002t0002g0326 a0001c0002t0004g0004 a0001c0002t0004g0245 a0001c0013t0024g0176 a0001c0014t0006g0006 a0001c0020t0006g0298	48	367	0.1308	100	c.654 others(117): Show c.654-1344_654-1343insCTGTGGGCAGCGGTGGGTACCCAGCACT GTGGGCAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTGGGCAGCACT GGGCAGCAGTGGGTACCCAGCA	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC7A1_chr13_29504414_29600688	29559472	G G	GGGGGGAG others(93): Show GGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAG AATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTG A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19011.hp1 NA18962.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0284 a0001c0001t0014g0285 a0001c0001t0014g0284 a0001c0001t0014g0285	2	301	0.0066	100	c.-11 others(119): Show c.-114-5613_-114-5612insTCACTCACATTCACTCCCCCTCACTC ACATTCACTCCCCCTCACTCACATTCTCTCCCCCTCACTCACATTCACTC CCCCTCACTCACATTCTCTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559472	G G	GGGGGGAG others(93): Show GGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAG AATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTG A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0239 a0001c0002t0004g0239	1	300	0.0033	100	c.-11 others(119): Show c.-114-5613_-114-5612insTCACTCACATTCTCTCCCCCTCACTC ACATTCACTCCCCCTCACTCACATTCTCTCCCCCTCACTCACATTCACTC CCCCTCACTCACATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLCO3A1_chr15_91848708_92170903	92047339	T T	TATATAAA others(93): Show TATATAAATATATAAATAAATATATAAATATATATAATATATAAATATAT ATAATATATAAATATATATAAATATATATAATATATAAATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02818.hp2 others(3): Show HG02258.hp1 HG02647.hp1 HG02818.hp2 HG02896.hp1 HG03130.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0012 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0019 a0001c0001t0059 a0001c0009t0001	a0001c0001t0001g0024 a0001c0001t0001g0186 a0001c0001t0012g0043 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0186 a0001c0001t0012g0043 a0001c0001t0019g0068 a0001c0001t0059g0162 a0001c0009t0001g0059	6	159	0.0377	100	c.647 others(119): Show c.647-47537_647-47536insAATATATAAATAAATATATAAATATA TATAATATATAAATATATATAATATATAAATATATATAAATATATATAAT ATATAAATATATATATATAATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850504	T T	TTATATAT others(93): Show TTATATATAACATATAATGTATAATATATGTTATATATAATATATATTAT GTATATGTTATATATATAATATATATTATGTATAATATATATTATATATT A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0280 a0001c0001t0093g0280	1	204	0.0049	100	c.784 others(115): Show c.784+769_784+770insTAATATATAATATATATTATACATAATATA TATTATATATATAACATATACATAATATATATTATATATAACATATATTA TACATTATATGTTATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMIM14_chr4_39541336_39643865	39619528	C C	CTATATCA others(93): Show CTATATCAATAAATATAATTTATTATATATCAATAAATATAATTTATTCT ATATATCAATAAATATAATTTATTATATATCAATAAATATAATTTATTCT A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	101	0.0099	100	c.-35 others(119): Show c.-35-14349_-35-14348insTAGAATAAATTATATTTATTGATATA TAATAAATTATATTTATTGATATATAGAATAAATTATATTTATTGATATA TAATAAATTATATTTATTGATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(93): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 NA18990.hp2 NA18999.hp1 HG06807.hp2 NA18990.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0074 a0001c0001t0001g0001 a0001c0001t0001g0074	3	4	0.7500	100	c.17 others(111): Show c.1785_*1786insCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMPX_chrX_21700978_21763116	21731578	A A	ACACATAC others(93): Show ACACATACACATAATGTGTGTATGTGTACACATACACATAATGTGTGTAT GTGTACACATACACATTATGTGTGTATGTGTATATATACACATTATGTGT G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	284	0.0035	100	c.14 others(117): Show c.14+5970_*14+5971insCACACATAATGTGTATATATACACATAC ACACATAATGTGTATGTGTACACATACACACATTATGTGTATGTGTACAC ATACACACATTATGTGTATGTG	SMPX	ENSG00000091482.8	transcript	ENST00000379494.4	protein_coding	4/4			chrX	TogoVar
SNTG2_chr2_945849_1372613	1221551	G G	GTCTCTAT others(93): Show GTCTCTATCTCTGTCTCTGTCTCTGTCTCTATCTCTGTCTCTGTCTCTGT ATCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGCCTCT C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0150 a0004c0004t0001g0150	1	172	0.0058	100	c.719 others(119): Show c.719+12322_719+12323insCTCTATCTCTGTCTCTGTCTCTGTCT CTATCTCTGTCTCTGTCTCTGTATCTCTGTCTCTGTCTCTCTCTGTCTCT GCCTATCTCTGTCTCTGCCTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221849	C C	CTCTCTGT others(93): Show CTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCT GCCCCTCCCTCTGTCTCTCTCTGTCCCTTTCAGTCTCTGGTTTTGTCTCT G	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0004 a0008c0011t0001g0004	1	162	0.0062	100	c.719 others(119): Show c.719+12622_719+12623insCTGTCGCTGTCTCTGCCTCTGTCTCT GCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTTT CAGTCTCTGGTTTTGTCTCTGTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221869	C C	CTGTCTGT others(93): Show CTGTCTGTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCTGTCT GTCTCTGTCTCTATCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTATCTCT G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0055 a0002c0003t0001g0055	1	170	0.0059	100	c.719 others(119): Show c.719+12640_719+12641insGTCTGTGTCTCTCTCTGTCTCTGCCT ATCTCTGTCTCTGTTTCTGTCTGTCTCTGTCTCTATCTCTGTCTCTGTCT CTCTCTGTCTCTGCCTATCTCTGT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222109	C C	CTCTCTGT others(93): Show CTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCT GTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTCT G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	137	0.0073	100	c.719 others(119): Show c.719+12890_719+12891insGCCTATCTCTGTCTCTGTTTCTCTCT GTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCT GTCTCTCTCTCTGTCTCTGTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX29_chr16_11971734_12579287	12476397	T T	TATATATA others(93): Show TATATATATATACATATATATATATATATATATATATACATATATATATA TATATATACATATATATATATATATATACATATATATATATATATATACA C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0130 a0001c0001t0032g0130	1	167	0.0060	100	c.203 others(119): Show c.2038-1311_2038-1310insCATATATATATATATATATATATATA CATATATATATATATATATACATATATATATATATATATACATATATATA TATATATATACACATATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12476399	T T	TATATATA others(93): Show TATATATATACATATATATATATATATATATATATACATATATATATATA TACATATATATATATATATATATATATATACATATATATATATATATATA C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0031	1	163	0.0061	100	c.203 others(119): Show c.2038-1311_2038-1310insCATATATATATATATATATATATATA CATATATATATATATACATATATATATATATATATATATATATACATATA TATATATATATATACATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX30_chr9_112745760_112879987	112866993	C C	CCCTCCTC others(93): Show CCCTCCTCAGAACTCCTCCCCCCTCCTCAGAATTCCATCTCCCTCCTCAG AACTCCTCCCCCCTCCTCAGAATTCCTTCTCCTTCCTCAGAACTCCTCCC A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03704.hp2 HG01516.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0214 a0001c0001t0001g0182 a0001c0001t0001g0214	2	326	0.0061	100	c.125 others(119): Show c.1255-1756_1255-1755insATCTCCCTCCTCAGAACTCCTCCCCC CTCCTCAGAATTCCTTCTCCTTCCTCAGAACTCCTCCCACCTCCTCAGAA CTCCTCCCCCCTCCTCAGAATTCC	SNX30	ENSG00000148158.17	transcript	ENST00000374232.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SORBS2_chr4_185580523_185817194	185796502	C C	CCTGGGCG others(93): Show CCTGGGCGCTGTGGCCACGCTGTTCCCTGGTCACGGTGAGGCTGGGCATG CCTGGGCTCTGTGGCCACGCTGTTCCCTGGTCACAGTAGGGCTGGGCATG G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01433.hp2 HG02109.hp1 others(8): Show HG01070.hp2 HG01433.hp2 HG02109.hp1 HG02258.hp2 HG02622.hp2 HG02630.hp1 HG02965.hp1 HG02965.hp2 HG03209.hp1 HG03225.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0027 a0001c0031 a0002c0024	a0001c0001t0010 a0001c0001t0035 a0001c0003t0006 others(8): Show a0001c0001t0010 a0001c0001t0035 a0001c0003t0006 a0001c0004t0017 a0001c0006t0012 a0001c0008t0067 a0001c0009t0004 a0001c0009t0007 a0001c0027t0010 a0001c0031t0016 a0002c0024t0007	a0001c0001t0010g0027 a0001c0001t0035g0002 a0001c0003t0006g0091 others(8): Show a0001c0001t0010g0027 a0001c0001t0035g0002 a0001c0003t0006g0091 a0001c0004t0017g0098 a0001c0006t0012g0286 a0001c0008t0067g0289 a0001c0009t0004g0287 a0001c0009t0007g0291 a0001c0027t0010g0045 a0001c0031t0016g0290 a0002c0024t0007g0073	11	310	0.0355	100	c.-23 others(121): Show c.-237+15161_-237+15162insCCATGCCCAGCCCTACTGTGACCA GGGAACAGCGTGGCCACAGAGCCCAGGCATGCCCAGCCTCACCGTGACCA GGGAACAGCGTGGCCACAGCGCCCAG	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185796509	G G	GCTGTGGC others(93): Show GCTGTGGCCACGCTGTTCCCTGGTCACGGTGAGGCTGGGCATGCCTGGGC TCTGTGGCCACGCTGTTCCCTGGTCACAGTAGGGCTGGGCATGGCTGGGC A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 NA19043.hp2 HG02896.hp1 HG02897.hp2 NA19043.hp2	a0001 a0001	a0001c0013 a0001c0017 a0001c0013 a0001c0017	a0001c0013t0010 a0001c0017t0018 a0001c0013t0010 a0001c0017t0018	a0001c0013t0010g0305 a0001c0013t0010g0306 a0001c0017t0018g0308 a0001c0013t0010g0305 a0001c0013t0010g0306 a0001c0017t0018g0308	3	308	0.0097	100	c.-23 others(121): Show c.-237+15154_-237+15155insTGCCCAGCCATGCCCAGCCCTACT GTGACCAGGGAACAGCGTGGCCACAGAGCCCAGGCATGCCCAGCCTCACC GTGACCAGGGAACAGCGTGGCCACAG	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185796709	T T	TCTGTGGC others(93): Show TCTGTGGCCACGCTGTTCCCTGGTCACGGTGGGGCTGGGCATGCCTGGGC GCTGTGGCCACGCTGTTCCCTGGTCACGGTGGGGCTGGGCATGCCTGGGC G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG01069.hp2 others(4): Show HG00280.hp1 HG00621.hp2 HG01069.hp2 HG02602.hp2 HG03710.hp1 HG04184.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0040 a0001c0001t0041	a0001c0001t0001g0192 a0001c0001t0001g0229 a0001c0001t0002g0047 others(4): Show a0001c0001t0001g0192 a0001c0001t0001g0229 a0001c0001t0002g0047 a0001c0001t0003g0062 a0001c0001t0006g0132 a0001c0001t0040g0006 a0001c0001t0041g0007	7	68	0.1029	100	c.-23 others(121): Show c.-237+14954_-237+14955insCGCCCAGGCATGCCCAGCCCCACC GTGACCAGGGAACAGCGTGGCCACAGCGCCCAGGCATGCCCAGCCCCACC GTGACCAGGGAACAGCGTGGCCACAG	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185796709	T T	TCTGTGGC others(93): Show TCTGTGGCCACGCTGTTCCCTGGTCACGGTGGGGCTGGGCATGCCTGGGC GCTGTGGCCACTCTGTTCCCTGGTCACGGTGGGGCTGGGCATGCCTGGGC G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp1 HG02895.hp1 others(5): Show HG01891.hp1 HG02647.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp2 HG03516.hp2 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0026 a0004c0016	a0001c0001t0014 a0001c0002t0014 a0001c0002t0045 others(4): Show a0001c0001t0014 a0001c0002t0014 a0001c0002t0045 a0001c0005t0010 a0001c0007t0044 a0001c0026t0072 a0004c0016t0021	a0001c0001t0014g0029 a0001c0002t0014g0017 a0001c0002t0045g0013 others(5): Show a0001c0001t0014g0029 a0001c0002t0014g0017 a0001c0002t0045g0013 a0001c0005t0010g0016 a0001c0007t0044g0012 a0001c0026t0072g0311 a0004c0016t0021g0224 a0004c0016t0021g0226	8	69	0.1159	100	c.-23 others(121): Show c.-237+14954_-237+14955insCGCCCAGGCATGCCCAGCCCCACC GTGACCAGGGAACAGAGTGGCCACAGCGCCCAGGCATGCCCAGCCCCACC GTGACCAGGGAACAGCGTGGCCACAG	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185796859	T T	TCTGTGGC others(93): Show TCTGTGGCCACGCTGTTCCCTGGTCACGGTGGGGCTGGGCATGCCTGGGC TCTGTGGCCACGCTGTTCCCTGGTCACGGTGGGGCTGGGCATGCCTGGGC G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03195.hp2 NA19240.hp1 HG02257.hp1 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 a0001c0001 a0001c0006 a0001c0008	a0001c0001t0019 a0001c0006t0019 a0001c0008t0010 a0001c0001t0019 a0001c0006t0019 a0001c0008t0010	a0001c0001t0019g0219 a0001c0006t0019g0026 a0001c0008t0010g0220 a0001c0001t0019g0219 a0001c0006t0019g0026 a0001c0008t0010g0220	3	292	0.0103	100	c.-23 others(121): Show c.-237+14804_-237+14805insCGCCCAGGCATGCCCAGCCCCACC GTGACCAGGGAACAGCGTGGCCACAGAGCCCAGGCATGCCCAGCCCCACC GTGACCAGGGAACAGCGTGGCCACAG	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7386977	T T	TGCACATA others(93): Show TGCACATACACATATGTACACACGCACACATGCACACACATACAGGTACA CGGAGATATGCACATGCACACACATACACACACATACACATTTGCACACA C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0070 a0001c0002t0039g0070	1	138	0.0072	100	c.481 others(117): Show c.481-9306_481-9305insTACACATATGTACACACGCACACATGCA CACACATACAGGTACACGGAGATATGCACATGCACACACATACACACACA TACACATTTGCACACACGCACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SP100_chr2_230411201_230550606	230513961	A A	AAAAGAAA others(93): Show AAAAGAAATTAGTCCTAAGAGTAACCAAATGAACAAGTCATCAATTTATA GTTGCTGTTGCTTGTTGAATACAAGCAAACAACTTGAAAACACAATAGAA T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(47): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01358.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01981.hp2 HG02074.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02293.hp1 HG02523.hp2 HG02735.hp1 HG03209.hp2 HG03239.hp1 HG03669.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18957.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA19002.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19067.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19087.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0005c0008 a0011c0011	a0001c0001t0003 a0001c0003t0003 a0002c0002t0001 others(3): Show a0001c0001t0003 a0001c0003t0003 a0002c0002t0001 a0003c0004t0003 a0005c0008t0003 a0011c0011t0003	a0001c0001t0003g0056 a0001c0001t0003g0070 a0001c0001t0003g0073 others(47): Show a0001c0001t0003g0056 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0077 a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0143 a0001c0001t0003g0199 a0001c0003t0003g0022 a0001c0003t0003g0063 a0001c0003t0003g0110 a0001c0003t0003g0139 a0001c0003t0003g0183 a0001c0003t0003g0185 a0001c0003t0003g0188 a0001c0003t0003g0197 a0001c0003t0003g0202 a0001c0003t0003g0212 a0001c0003t0003g0227 a0001c0003t0003g0273 a0001c0003t0003g0288 a0002c0002t0001g0034 a0003c0004t0003g0016 a0003c0004t0003g0061 a0003c0004t0003g0062 a0003c0004t0003g0081 a0003c0004t0003g0103 a0003c0004t0003g0112 a0003c0004t0003g0114 a0003c0004t0003g0116 a0003c0004t0003g0133 a0003c0004t0003g0137 a0003c0004t0003g0142 a0003c0004t0003g0146 a0003c0004t0003g0162 a0003c0004t0003g0165 a0003c0004t0003g0189 a0003c0004t0003g0208 a0003c0004t0003g0222 a0003c0004t0003g0239 a0003c0004t0003g0241 a0003c0004t0003g0255 a0003c0004t0003g0261 a0003c0004t0003g0262 a0003c0004t0003g0263 a0003c0004t0003g0264 a0003c0004t0003g0271 a0005c0008t0003g0003 a0011c0011t0003g0086	50	287	0.1742	100	c.209 others(119): Show c.2094+2957_2094+3056dupTGTTGAATACAAGCAAACAACTTGAA AACACAATAGAATAAAGAAATTAGTCCTAAGAGTAACCAAATGAACAAGT CATCAATTTATAGTTGCTGTTGCT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAAR_chr9_35904490_35916686	35914018	G G	GTGTGTGT others(93): Show GTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGT GAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02976.hp2 HG03017.hp2 others(2): Show HG02698.hp1 HG02976.hp2 HG03017.hp2 HG03540.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	5	412	0.0121	100	c.33 others(111): Show c.3327_*3328insTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2333		chr9	TogoVar
SPATA13_chr13_24155720_24312069	24189953	T T	TTATATAA others(93): Show TTATATAATTATATAATATATTACGTAATATATTATATAATTATATAATA TATTACGTAATATATTATATATAATTATATAATATATTACGTAATATATT A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	35	0.0286	100	c.-11 others(121): Show c.-112+29033_-112+29034insTAATATATTACGTAATATATTATA TAATTATATAATATATTACGTAATATATTATATATAATTATATAATATAT TACGTAATATATTATATATAATTATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPNS3_chr17_4428940_4493204	4462582	C C	CACCAATC others(93): Show CACCAATCCATCCATCTACCCACCCACCAATCCATCCATCCATCCATCCA TCCACCCACCCACCCACCCACCCACCCACCCACCCATTCATCCACCAATC T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0002 a0001c0049t0002	a0001c0049t0002g0003 a0001c0049t0002g0003	1	138	0.0072	100	c.111 others(119): Show c.1113+9378_1113+9379insCCAATCCATCCATCTACCCACCCACC AATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCA CCCACCCATTCATCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCK3_chr4_166728384_167239494	167205372	A A	ATATATAT others(93): Show ATATATATAATATATATTATATATTATATATAAAATATATATATTATATA TTATATATAATATATATTATATATTATATATAAAATATATATATTATATA T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG03195.hp2 HG01884.hp1 HG02280.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0015 a0001c0001t0002g0014 a0001c0001t0003g0025 a0001c0001t0001g0015 a0001c0001t0002g0014 a0001c0001t0003g0025	3	140	0.0214	100	c.189 others(119): Show c.189+28612_189+28613insATATATAATATATATATTTTATATAT AATATATAATATATATTATATATAATATATAATATATATATTTTATATAT AATATATAATATATATTATATATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SRBD1_chr2_45383680_45616267	45587037	A A	ATTTTTAA others(93): Show ATTTTTAAATATTTAATTATTTTAAATTATAAATATTAAAATATTTAAAA TTTTTTAAATATTTAATTATTTTAAAATATAATTATTAAAATATTTAAAA T	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	261	0.0038	100	c.649 others(117): Show c.649-1363_649-1264dupATTTTAAATATTTTAATAATTATATTTT AAAATAATTAAATATTTAAAAAATTTTAAATATTTTAATATTTATAATTT AAAATAATTAAATATTTAAAAA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45587087	T T	TTTTTTAA others(93): Show TTTTTTAAATATTTAATTATTTTAAAATATAATTATTAAAATATTTAAAA TTTTTTAAATATTTAATTATTTTAAATTATAAATATTAAAATATTTAAAA A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG00735.hp1 others(19): Show HG00140.hp2 HG00621.hp1 HG00735.hp1 HG01192.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01952.hp1 HG02080.hp1 HG02683.hp1 HG03669.hp1 HG03704.hp2 HG04184.hp1 NA18952.hp2 NA18962.hp1 NA18975.hp1 NA18984.hp1 NA18998.hp1 NA19068.hp2 NA19070.hp1 NA19075.hp2 NA19082.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0005 a0012c0012 a0001c0001 a0001c0005 a0012c0012	a0001c0001t0001 a0001c0005t0001 a0012c0012t0001 a0001c0001t0001 a0001c0005t0001 a0012c0012t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 others(19): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0005t0001g0141 a0001c0005t0001g0142 a0001c0005t0001g0143 a0012c0012t0001g0160	22	276	0.0797	100	c.649 others(117): Show c.649-1413_649-1314dupTTTTTAAATATTTTAATATTTATAATTT AAAATAATTAAATATTTAAAAAATTTTAAATATTTTAATAATTATATTTT AAAATAATTAAATATTTAAAAA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRFBP1_chr5_121956975_122033633	121961698	A A	AACGAACA others(93): Show AACGAACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACACA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18993.hp2 NA19091.hp1 NA18945.hp1 NA18993.hp2 NA19091.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0002 a0002c0003t0002g0036 a0002c0003t0002g0002 a0002c0003t0002g0036	3	132	0.0227	100	c.-33 others(109): Show c.-335_-334insACGAACACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACACACACACAC ACACACACACACAC	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		276		chr5	TogoVar
SRFBP1_chr5_121956975_122033633	121961698	A A	AACGAACG others(93): Show AACGAACGAACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACACA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0030 a0002c0003t0002g0030	1	130	0.0077	100	c.-33 others(109): Show c.-335_-334insACGAACGAACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACACACACACAC ACACACACACACAC	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		276		chr5	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(93): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01169.hp2 others(2): Show HG00280.hp2 HG00733.hp2 HG01169.hp2 HG01358.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0001t0002 a0001c0001t0005 a0001c0001t0017	a0001c0001t0002g0069 a0001c0001t0005g0071 a0001c0001t0005g0076 others(2): Show a0001c0001t0002g0069 a0001c0001t0005g0071 a0001c0001t0005g0076 a0001c0001t0005g0200 a0001c0001t0017g0087	5	75	0.0667	100	c.262 others(119): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016174	G G	GTATCTCC others(93): Show GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp1 HG01358.hp1 others(11): Show HG01106.hp1 HG01192.hp1 HG01358.hp1 HG03130.hp1 NA18939.hp2 NA18957.hp1 NA18994.hp2 NA18998.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp2 NA19081.hp2 NA19091.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0002c0003t0014	a0001c0001t0002g0003 a0001c0001t0002g0024 a0001c0001t0002g0029 others(11): Show a0001c0001t0002g0003 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0116 a0001c0001t0003g0070 a0001c0001t0004g0028 a0001c0001t0004g0145 a0001c0001t0004g0159 a0001c0001t0012g0166 a0002c0003t0014g0172 a0002c0003t0014g0174	14	15	0.9333	100	c.262 others(119): Show c.262-28029_262-28028insATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STAM2_chr2_152111801_152180763	152173406	A A	ACGTATAT others(93): Show ACGTATATATATATATGTATACATATATATATATACGTATATATATATGT ATACATATATATATATACGTATATATATATATGTATACATATATATATAT T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0037 a0001c0001t0028g0037	1	149	0.0067	100	c.40+ others(115): Show c.40+2196_40+2197insAATATATATATATGTATACATATATATATA TACGTATATATATATATGTATACATATATATATACGTATATATATATATG TATACATATATATATATACG	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STN1_chr10_103872569_103923184	103909390	G G	GTATATAT others(93): Show GTATATATATATGTATATATGTATGTATATATATGTATATGTATGTATAT ATATGTATATATGTATATATATGTATATATGTATATATATGTATATATGT A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03492.hp1 HG03704.hp1 HG02683.hp1 HG03492.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0043 a0001c0001t0003g0052 a0001c0001t0003g0053	3	255	0.0118	100	c.229 others(117): Show c.229+1136_229+1137insTACATATATACATATATATACATATATA CATATATATACATATATACATATATATACATACATATACATATATATACA TACATATATACATATATATATA	STN1	ENSG00000107960.12	transcript	ENST00000224950.8	protein_coding	3/9			chr10	TogoVar
STOML3_chr13_38960925_38995831	38988444	T T	TTATATTT others(93): Show TTATATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCA TATATTTTATATAAAATATATGATATTTTATATCATATATTTTATATATA A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp2 HG01256.hp1 others(1): Show HG00733.hp2 HG01168.hp2 HG01256.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0110 a0001c0001t0003g0230 a0001c0001t0003g0033 a0001c0001t0003g0110 a0001c0001t0003g0230	4	341	0.0117	100	c.52+ others(115): Show c.52+2225_52+2226insTTATATATAAAATATATGATATAAAATATC ATATATTTTATATAAAATATATGATATAAAATATCATATATTTTATATAA AATATATGATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar

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