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
SIK3_chr11_116838402_117103428	116842618	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01934.hp2 HG01175.hp1 HG01934.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0309 a0002c0003t0007g0324 a0002c0003t0007g0309 a0002c0003t0007g0324	2	132	0.0152	26	c.30 others(37): Show c.3024_*3025insAAAAAAAAAAAAAAAAAAAAAAAAAA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding		783		chr11	TogoVar
SIK3_chr11_116838402_117103428	116917823	G G	GGAAGGAA others(19): Show GGAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0184 a0002c0004t0005g0184	1	342	0.0029	26	c.616 others(43): Show c.616+9395_616+9396insTCCTTTCCTTTCCTTTCCTTTCCTTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116917827	G G	GAAAGGAA others(19): Show GAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	34	0.0294	26	c.616 others(43): Show c.616+9391_616+9392insTCCTTTCCTTTCCTTTCCTTTCCTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116965752	T T	TAACATGG others(19): Show TAACATGGTGAAAACCCGTCTCTGCTA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0039 a0012c0018t0001g0039	1	364	0.0027	26	c.274 others(43): Show c.274-8689_274-8688insTAGCAGAGACGGGTTTTCACCATGTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013903	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	241	0.0041	26	c.274 others(45): Show c.274-56840_274-56839insACACACACACACACACACACACACAC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013908	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02976.hp1 others(2): Show HG01891.hp1 HG02280.hp1 HG02976.hp1 HG03195.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0162 a0001c0001t0003g0163 others(2): Show a0001c0001t0003g0154 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165	5	364	0.0137	26	c.274 others(45): Show c.274-56845_274-56844insTACACACACACACACACACACACACA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117021928	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03239.hp2 NA19066.hp2 HG02055.hp1 HG03239.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0223 a0001c0001t0001g0266 a0001c0001t0001g0194 a0001c0001t0001g0223 a0001c0001t0001g0266	3	32	0.0938	26	c.274 others(45): Show c.274-64890_274-64865dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0002 a0017c0025t0002	a0017c0025t0002g0030 a0017c0025t0002g0030	1	199	0.0050	26	c.274 others(45): Show c.274-66558_274-66557insATATATATATATATATATATATATTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	139155448	T T	TGAGAGAG others(19): Show TGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01934.hp1 HG02683.hp2 others(4): Show HG01109.hp2 HG01934.hp1 HG02683.hp2 NA18942.hp1 NA18964.hp1 NA18982.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0047 others(4): Show a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0067 a0001c0001t0001g0166 a0001c0001t0001g0171	7	123	0.0569	26	c.-10 others(45): Show c.-10-27621_-10-27596dupTCTCTCTCTCTCTCTCTCTCTCTCTC	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIM2_chr21_36694115_36754917	36737961	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA20300.hp2 HG04228.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0257 a0001c0002t0002g0298 a0001c0002t0002g0257 a0001c0002t0002g0298	2	164	0.0122	26	c.851 others(43): Show c.851-3735_851-3734insAAAAAAAAAAAAAAAAAAAAAAAAAA	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIPA1L1_chr14_71315476_71746209	71417469	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	21	0.0476	26	c.-46 others(47): Show c.-464-95265_-464-95240dupAAAAAAAAAAAAAAAAAAAAAAAA AA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71603920	A A	AATATATA others(19): Show AATATATATATATTTATATATCTATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	172	0.0058	26	c.149 others(47): Show c.1498+14555_1498+14580dupATATATATTTATATATCTATATAT AT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71603944	T T	TATATATT others(19): Show TATATATTTATATATATTTATATATAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02738.hp1 HG03239.hp2 others(1): Show HG00099.hp2 HG02738.hp1 HG03239.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 others(1): Show a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088	4	171	0.0234	26	c.149 others(47): Show c.1498+14600_1498+14625dupGATATATTTATATATATTTATATA TA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L2_chr1_232392965_232635133	232528102	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG01952.hp1 others(7): Show HG01175.hp1 HG01243.hp2 HG01952.hp1 HG02040.hp2 HG02145.hp1 HG02280.hp2 HG02723.hp1 HG04199.hp2 HG06807.hp2 NA18966.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0001c0005 a0001c0055 others(5): Show a0001c0003 a0001c0005 a0001c0055 a0002c0007 a0002c0008 a0002c0023 a0003c0013 a0005c0058	a0001c0003t0004 a0001c0003t0006 a0001c0005t0002 others(7): Show a0001c0003t0004 a0001c0003t0006 a0001c0005t0002 a0001c0055t0009 a0002c0007t0002 a0002c0008t0001 a0002c0008t0003 a0002c0023t0002 a0003c0013t0002 a0005c0058t0002	a0001c0003t0004g0135 a0001c0003t0006g0012 a0001c0005t0002g0025 others(7): Show a0001c0003t0004g0135 a0001c0003t0006g0012 a0001c0005t0002g0025 a0001c0055t0009g0169 a0002c0007t0002g0028 a0002c0008t0001g0080 a0002c0008t0003g0278 a0002c0023t0002g0020 a0003c0013t0002g0057 a0005c0058t0002g0039	10	72	0.1389	26	c.-26 others(47): Show c.-269-12495_-269-12494insGATATATATATATATATATATATA TA	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	37937741	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19009.hp2 NA19030.hp2 others(1): Show HG02886.hp2 NA19009.hp2 NA19030.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0039 a0001c0001 a0004c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0004c0039t0001	a0001c0001t0001g0005 a0001c0001t0002g0054 a0001c0001t0005g0096 others(1): Show a0001c0001t0001g0005 a0001c0001t0002g0054 a0001c0001t0005g0096 a0004c0039t0001g0123	4	47	0.0851	26	c.-37 others(47): Show c.-379+30406_-379+30407insAAAAAAAAAAAAAAAAAAAAAAAA AA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38000896	A A	ATATATAT others(19): Show ATATATATATAACATATATATATATGT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0001 a0002c0020t0001	a0002c0020t0001g0133 a0002c0020t0001g0133	1	160	0.0063	26	c.-37 others(47): Show c.-378-28183_-378-28182insACATATATATATATGTTATATATA TA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38030623	A A	AATACATA others(19): Show AATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02717.hp1 NA19043.hp2 HG00639.hp2 HG02717.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0023 a0001c0003t0007 a0001c0001t0002 a0001c0001t0023 a0001c0003t0007	a0001c0001t0002g0079 a0001c0001t0023g0078 a0001c0003t0007g0043 a0001c0001t0002g0079 a0001c0001t0023g0078 a0001c0003t0007g0043	3	113	0.0265	26	c.-31 others(45): Show c.-311+1470_-311+1471insCATATATATATATATATATATATATA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38155981	T T	TGAGGCAG others(19): Show TGAGGCAGGAGAATCGCTTGAACACGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0018 a0002c0015t0018	a0002c0015t0018g0115 a0002c0015t0018g0115	1	162	0.0062	26	c.366 others(45): Show c.3661+3022_3661+3047dupGAGAATCGCTTGAACACGGGAGGCAG	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRPB1_chr20_1556385_1625009	1559135	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01516.hp2 HG02886.hp1 others(2): Show HG01123.hp2 HG01516.hp2 HG02886.hp1 HG03209.hp1 HG03486.hp2	a0003 a0012 a0003 a0012	a0003c0003 a0012c0017 a0003c0003 a0012c0017	a0003c0003t0005 a0012c0017t0005 a0003c0003t0005 a0012c0017t0005	a0003c0003t0005g0007 a0003c0003t0005g0047 a0003c0003t0005g0150 others(2): Show a0003c0003t0005g0007 a0003c0003t0005g0047 a0003c0003t0005g0150 a0003c0003t0005g0152 a0012c0017t0005g0055	5	296	0.0169	26	c.63 others(37): Show c.6364_*6365insTATATATATATATATATATATATATA	SIRPB1	ENSG00000101307.16	transcript	ENST00000381605.9	protein_coding		2249		chr20	TogoVar
SIRPD_chr20_1529251_1562705	1559135	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01516.hp1 HG02886.hp1 others(2): Show HG01123.hp1 HG01516.hp1 HG02886.hp1 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0043 a0001c0004t0001g0009 a0001c0004t0001g0043	5	322	0.0155	26	c.-14 others(37): Show c.-1483_-1482insTATATATATATATATATATATATATA	SIRPD	ENSG00000125900.13	transcript	ENST00000381623.4	protein_coding		1431		chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650002	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG00735.hp1 others(6): Show HG00558.hp1 HG00639.hp1 HG00735.hp1 HG01496.hp1 HG02165.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 NA19058.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0004 a0001c0033 others(3): Show a0001c0001 a0001c0004 a0001c0033 a0002c0002 a0004c0008 a0008c0027	a0001c0001t0002 a0001c0004t0004 a0001c0033t0001 others(5): Show a0001c0001t0002 a0001c0004t0004 a0001c0033t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0009 a0004c0008t0003 a0008c0027t0005	a0001c0001t0002g0162 a0001c0004t0004g0234 a0001c0033t0001g0239 others(6): Show a0001c0001t0002g0162 a0001c0004t0004g0234 a0001c0033t0001g0239 a0002c0002t0003g0106 a0002c0002t0003g0107 a0002c0002t0005g0252 a0002c0002t0009g0108 a0004c0008t0003g0109 a0008c0027t0005g0110	9	144	0.0625	26	c.74- others(39): Show c.74-595_74-594insTATATATATATATATATATATATATA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650004	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02896.hp2 HG02897.hp2 HG02615.hp2 HG02896.hp2 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0011 a0001c0004 a0002c0011	a0001c0004t0004 a0002c0011t0004 a0001c0004t0004 a0002c0011t0004	a0001c0004t0004g0064 a0001c0004t0004g0065 a0002c0011t0004g0237 a0001c0004t0004g0064 a0001c0004t0004g0065 a0002c0011t0004g0237	3	73	0.0411	26	c.74- others(39): Show c.74-597_74-596insTATATATATATATATATATATATATA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRT5_chr6_13569601_13620158	13574140	G G	GCCCCCCA others(19): Show GCCCCCCACCCCCACCCCCACCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	391	0.0026	26	c.-79 others(35): Show c.-799_-798insCCCCCCACCCCCACCCCCACCCCCCA	SIRT5	ENSG00000124523.17	transcript	ENST00000606117.2	protein_coding		460		chr6	TogoVar
SIT1_chr9_35644295_35655931	35647667	T T	TGAGAGAG others(19): Show TGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 NA18949.hp2 NA19075.hp1 HG00642.hp1 NA18949.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0001g0002 a0001c0001t0002g0003	3	24	0.1250	26	c.21 others(37): Show c.2180_*2181insTCTCTCTCTCTCTCTCTCTCTCTCTC	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		1627		chr9	TogoVar
SIX5_chr19_45759785_45774252	45770204	C C	CAGCAGCA others(19): Show CAGCAGCAGCAGCAGCAGCAGCAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	6	0.1667	26	c.-13 others(37): Show c.-1361_-1360insCTGCTGCTGCTGCTGCTGCTGCTGCT	SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding		953		chr19	TogoVar
SI_chr3_164973898_165083496	165065464	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00673.hp2 others(17): Show HG00140.hp1 HG00438.hp2 HG00673.hp2 HG01099.hp2 HG01175.hp2 HG01256.hp1 HG02135.hp1 HG02280.hp2 HG02723.hp2 HG02896.hp1 HG02922.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp1 NA18945.hp2 NA18965.hp1 NA19079.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0010 a0001c0027 others(2): Show a0001c0001 a0001c0010 a0001c0027 a0004c0004 a0005c0008	a0001c0001t0001 a0001c0010t0001 a0001c0027t0003 others(2): Show a0001c0001t0001 a0001c0010t0001 a0001c0027t0003 a0004c0004t0004 a0005c0008t0003	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(17): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0151 a0001c0010t0001g0103 a0001c0027t0003g0104 a0004c0004t0004g0072 a0004c0004t0004g0073 a0004c0004t0004g0133 a0005c0008t0003g0155	20	131	0.1527	26	c.636 others(39): Show c.636-58_636-33dupATATATATATATATATATATATATAT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	6/47			chr3	TogoVar
SKAP1_chr17_48128442_48435214	48367536	G G	GTATATAT others(19): Show GTATATATATATATGGATATATATCCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00558.hp2 others(65): Show HG00423.hp2 HG00544.hp2 HG00558.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01891.hp2 HG01952.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02155.hp2 HG02280.hp1 HG02559.hp2 HG02723.hp1 HG02886.hp2 HG03017.hp1 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03942.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18959.hp1 NA18962.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp2 NA18982.hp2 NA18984.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19010.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 others(65): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0002c0002t0001g0104 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0148 a0002c0002t0001g0155 a0002c0002t0001g0203 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0003g0291 a0002c0002t0003g0292	68	168	0.4048	26	c.153 others(43): Show c.153-3748_153-3723dupTGGATATATATCCATATATATATATA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	2/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0217 a0002c0004t0001g0217	1	194	0.0052	26	c.46+ others(43): Show c.46+16551_46+16552insATTTTTTTTTTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP2_chr7_26662068_26869590	26717509	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01515.hp1 NA19043.hp1 HG00140.hp2 HG01515.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0165 a0001c0001t0001g0199 a0001c0001t0003g0171 a0001c0001t0001g0165 a0001c0001t0001g0199 a0001c0001t0003g0171	3	27	0.1111	26	c.796 others(43): Show c.796+7893_796+7918dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	9/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26864055	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	91	0.0110	26	c.67+ others(39): Show c.67+282_67+307dupTGTGTGTGTGTGTGTGTGTGTGTGTG	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	1/12			chr7	TogoVar
SKIL_chr3_170352715_170401835	170365752	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18949.hp2 NA18951.hp2 HG00558.hp2 NA18949.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0044 a0002c0002t0006 a0002c0002t0044	a0002c0002t0006g0258 a0002c0002t0006g0325 a0002c0002t0044g0311 a0002c0002t0006g0258 a0002c0002t0006g0325 a0002c0002t0044g0311	3	49	0.0612	26	c.109 others(45): Show c.1098+4344_1098+4345insTTTTTTTTTTTTTTTTTTTTTTTTTT	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG03540.hp2 NA18947.hp1 others(3): Show HG01069.hp1 HG03540.hp2 NA18947.hp1 NA19000.hp1 NA19063.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0095 a0001c0001t0001g0097 others(3): Show a0001c0001t0001g0052 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0153	6	100	0.0600	26	c.46 others(37): Show c.4684_*4709dupGTGTGTGTGTGTGTGTGTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(19): Show TACATACATACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	95	0.0105	26	c.47 others(37): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(19): Show TACATACATACATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01168.hp2 HG01169.hp2 others(1): Show HG00408.hp2 HG01168.hp2 HG01169.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0085 a0001c0001t0001g0099 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0085 a0001c0001t0001g0099 a0001c0001t0001g0209	4	98	0.0408	26	c.47 others(37): Show c.4709_*4710insGTGTGTGTGTGTGTATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(19): Show TACATACATACATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02280.hp2 NA18939.hp2 HG00642.hp1 HG02280.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0283 a0001c0001t0001g0332 a0001c0001t0001g0152 a0001c0001t0001g0283 a0001c0001t0001g0332	3	97	0.0309	26	c.47 others(37): Show c.4709_*4710insGTGTGTGTGTGTATATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACTTACA others(19): Show TACTTACATACATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	95	0.0105	26	c.47 others(37): Show c.4709_*4710insGTGTGTGTGTGTGTATGTATGTAAGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609256	C C	CACACACA others(19): Show CACACACACACACACACACACACACTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	342	0.0029	26	c.46 others(37): Show c.4609_*4610insTAGTGTGTGTGTGTGTGTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3061		chr20	TogoVar
SLA2_chr20_36607318_36651196	36614038	A A	ACTCACTA others(19): Show ACTCACTACACACAAAATTGCACTGTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	358	0.0028	26	c.666 others(39): Show c.666-78_666-53dupAACAGTGCAATTTTGTGTGTAGTGAG	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	7/7			chr20	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	155	0.0065	26	c.24 others(37): Show c.2463_*2464insAAAAAAAATATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLA_chr8_133031728_133107602	133037429	T T	TTTCTAAA others(19): Show TTTCTAAAAAATCCAGCTATTCTTACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0111 a0001c0001t0024g0111	1	342	0.0029	26	c.10 others(37): Show c.1069_*1094dupGGTAAGAATAGCTGGATTTTTTAGAA	SLA	ENSG00000155926.14	transcript	ENST00000338087.10	protein_coding	9/9	1094		chr8	TogoVar
SLC10A6_chr4_86818468_86854384	86842876	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	344	0.0029	26	c.377 others(43): Show c.377+5862_377+5863insGAAAGAAAGAAAGAAAGAAAGAAAGA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A1_chr15_48201302_48309078	48250676	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03209.hp2 HG03516.hp2 HG03130.hp2 HG03209.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0091 a0001c0001t0001g0120 a0001c0001t0001g0006 a0001c0001t0001g0091 a0001c0001t0001g0120	3	20	0.1500	26	c.178 others(43): Show c.1787-933_1787-908dupACACACACACACACACACACACACAC	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(19): Show ATATATATATATATATATATAATTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	74	0.0135	26	c.104 others(45): Show c.1049-4100_1049-4099insATATATATATATATATATAATTTTTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A3_chr16_56860207_56920850	56887772	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18906.hp1 HG01261.hp2 NA18906.hp1	a0003 a0004 a0003 a0004	a0003c0019 a0004c0013 a0003c0019 a0004c0013	a0003c0019t0004 a0004c0013t0001 a0003c0019t0004 a0004c0013t0001	a0003c0019t0004g0187 a0004c0013t0001g0172 a0003c0019t0004g0187 a0004c0013t0001g0172	2	355	0.0056	26	c.217 others(43): Show c.2179-152_2179-151insTTATATATATATATATATATATATAT	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A3_chr16_56860207_56920850	56908161	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG06807.hp2 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0276 a0001c0001t0008g0278 a0001c0001t0008g0276 a0001c0001t0008g0278	2	195	0.0103	26	c.292 others(45): Show c.2924+3718_2924+3719insTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	25/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A7_chr5_1045384_1117063	1046808	A A	AGTGTGTG others(19): Show AGTGTGTGAATGAATGGGCGAGTTAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0098 a0002c0002t0002g0098	1	7	0.1429	26	c.55 others(37): Show c.5551_*5552insACTAACTCGCCCATTCATTCACACAC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		3575		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098431	G G	GCCCCCCT others(19): Show GCCCCCCTCTAACCCTCTGCACGCCCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0107 a0001c0028t0002g0107	1	84	0.0119	26	c.125 others(43): Show c.125-4184_125-4183insTGGGCGTGCAGAGGGTTAGAGGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098431	G G	GCCCCCCT others(19): Show GCCCCCCTCTAACCCTCTGCTCACCCA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03491.hp1 HG04184.hp1 others(4): Show HG02040.hp2 HG03491.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18967.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0032 a0001c0001 a0001c0032	a0001c0001t0001 a0001c0001t0018 a0001c0032t0001 a0001c0001t0001 a0001c0001t0018 a0001c0032t0001	a0001c0001t0001g0011 a0001c0001t0001g0095 a0001c0001t0001g0109 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0018g0096 a0001c0032t0001g0112	7	90	0.0778	26	c.125 others(43): Show c.125-4184_125-4183insTGGGTGAGCAGAGGGTTAGAGGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098676	G G	GGCCCCCT others(19): Show GGCCCCCTCTAACCCTCTGCACGCCCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0064 a0001c0009t0006g0064	1	54	0.0185	26	c.125 others(43): Show c.125-4429_125-4428insTGGGCGTGCAGAGGGTTAGAGGGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC13A3_chr20_46552828_46656459	46632911	A A	AGATAGAT others(19): Show AGATAGATAGACAGACAGATAGCTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 HG03579.hp2 others(3): Show HG02055.hp1 HG02965.hp1 HG03579.hp2 HG06807.hp2 NA18948.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0003t0006 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0006 a0001c0003t0009 a0001c0005t0002	a0001c0001t0001g0305 a0001c0001t0001g0365 a0001c0002t0002g0379 others(3): Show a0001c0001t0001g0305 a0001c0001t0001g0365 a0001c0002t0002g0379 a0001c0003t0006g0369 a0001c0003t0009g0168 a0001c0005t0002g0050	6	179	0.0335	26	c.111 others(45): Show c.111+18399_111+18400insAAGAGCTATCTGTCTGTCTATCTATC	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar

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