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
SMOC2_chr6_168436184_168672992	168594755	GCTCCTCC others(47): Show GCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCG AGCTC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02895.hp1 HG02970.hp1 others(1): Show HG02109.hp1 HG02895.hp1 HG02970.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0002t0005 a0001c0002t0007 others(1): Show a0001c0001t0001 a0001c0002t0005 a0001c0002t0007 a0001c0013t0002	a0001c0001t0001g0127 a0001c0002t0005g0069 a0001c0002t0007g0053 others(1): Show a0001c0001t0001g0127 a0001c0002t0005g0069 a0001c0002t0007g0053 a0001c0013t0002g0033	4	178	0.0225	-54	c.638 others(71): Show c.638-4054_638-4001delCCTTCCTGAGGCCTCACGGGCATCTTTC TAGAGGATCGCCGAGCTCCTCCTCCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168614374	GGCCTCTT others(47): Show GGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTTTATACCTACAGCCA GCACA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	131	0.0076	-54	c.907 others(71): Show c.907+6137_907+6190delCCTCTTCATACCTACAGCCAGCACAGGG CCTCTTTATACCTACAGCCAGCACAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168615201	GGGCCTCT others(47): Show GGGCCTCTTTATACCTACAGCCAGCACGGGGCCTCTTCACACCTACAGCC AGCAC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18906.hp2 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0075 a0001c0001t0001g0078	2	178	0.0112	-54	c.907 others(71): Show c.907+6965_907+7018delCCTCTTTATACCTACAGCCAGCACGGGG CCTCTTCACACCTACAGCCAGCACGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPX_chrX_21700978_21763116	21731455	AATGTGTG others(47): Show AATGTGTGTATGTGTACACATACACATTATGTGTGTATGTGTACACATAC ACATT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	258	0.0039	-54	c.14 others(71): Show c.14+6040_*14+6093delAATGTGTATGTGTACACATACACACATA ATGTGTATGTGTACACATACACACAT	SMPX	ENSG00000091482.8	transcript	ENST00000379494.4	protein_coding	4/4			chrX	TogoVar
SNED1_chr2_240993618_241100568	241076775	CGCCTGTA others(47): Show CGCCTGTAATCCGTGGAAAAGAACTGAGAGTCCAGGGCCGGGCGCAGTGG CTCAG	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18990.hp2 NA19063.hp2 NA18970.hp2 NA18990.hp2 NA19063.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0032 a0003c0004t0006 a0003c0004t0032	a0003c0004t0006g0120 a0003c0004t0006g0123 a0003c0004t0032g0122 a0003c0004t0006g0120 a0003c0004t0006g0123 a0003c0004t0032g0122	3	342	0.0088	-54	c.391 others(73): Show c.3916+3423_3916+3476delGTGGAAAAGAACTGAGAGTCCAGGGC CGGGCGCAGTGGCTCAGGCCTGTAATCC	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1272679	TAGAAAGG others(47): Show TAGAAAGGACACCCCAGGGAGCGGGTGCAGAAAGGACACCCCAGGGAGCG GGTGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp1 HG03486.hp1 others(1): Show HG02280.hp2 HG02965.hp1 HG03486.hp1 NA20129.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0010c0013 a0001c0002 a0010c0013	a0001c0002t0001 a0001c0002t0002 a0010c0013t0001 a0001c0002t0001 a0001c0002t0002 a0010c0013t0001	a0001c0002t0001g0069 a0001c0002t0001g0141 a0001c0002t0002g0002 others(1): Show a0001c0002t0001g0069 a0001c0002t0001g0141 a0001c0002t0002g0002 a0010c0013t0001g0140	4	103	0.0388	-54	c.128 others(73): Show c.1284+5197_1284+5250delACACCCCAGGGAGCGGGTGCAGAAAG GACACCCCAGGGAGCGGGTGCAGAAAGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81842530	GAAAGAAA others(47): Show GAAAGAAAACGAGCGAGGGAGAGAGCGAGAGCGAGAGAGAGAGAGAGAGA GCGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	301	0.0033	-54	c.-55 others(63): Show c.-559_-506delGACGCTCTCTCTCTCTCTCTCTCGCTCTCGCTCTCT CCCTCGCTCGTTTTCTTT	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		346		chr8	TogoVar
SNX8_chr7_2246770_2319441	2278642	AGCCGGAC others(47): Show AGCCGGACTCACACTACGGAGTCGACGCCGGACTCACTCACACTACGGAG TCGAC	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03927.hp1 HG04115.hp2 others(1): Show HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0039 a0001c0006t0013 a0001c0006t0039	a0001c0006t0013g0174 a0001c0006t0013g0192 a0001c0006t0013g0274 others(1): Show a0001c0006t0013g0174 a0001c0006t0013g0192 a0001c0006t0013g0274 a0001c0006t0039g0144	4	368	0.0109	-54	c.95- others(67): Show c.95-391_95-338delGTCGACTCCGTAGTGTGAGTGAGTCCGGCGTC GACTCCGTAGTGTGAGTCCGGC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar
SNX8_chr7_2246770_2319441	2278982	CGCCGGAC others(47): Show CGCCGGACTCACACTACGGAGTCGACGCCGGACTCACTCACACTACGGAG TCGAA	C C	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0108 a0001c0001t0007g0108	1	337	0.0030	-54	c.95- others(67): Show c.95-731_95-678delTTCGACTCCGTAGTGTGAGTGAGTCCGGCGTC GACTCCGTAGTGTGAGTCCGGC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(47): Show TACACACACACACACACACACACACACACACACACACACACACACACACA CACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01099.hp1 HG02602.hp1 others(8): Show HG01070.hp2 HG01099.hp1 HG02602.hp1 HG02818.hp2 HG02970.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03831.hp1 NA18987.hp1 NA20300.hp2	a0001 a0003 a0008 others(2): Show a0001 a0003 a0008 a0021 a0026	a0001c0001 a0003c0004 a0003c0049 others(3): Show a0001c0001 a0003c0004 a0003c0049 a0008c0013 a0021c0036 a0026c0044	a0001c0001t0001 a0003c0004t0001 a0003c0004t0002 others(4): Show a0001c0001t0001 a0003c0004t0001 a0003c0004t0002 a0003c0049t0002 a0008c0013t0001 a0021c0036t0001 a0026c0044t0001	a0001c0001t0001g0006 a0001c0001t0001g0063 a0001c0001t0001g0156 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0063 a0001c0001t0001g0156 a0003c0004t0001g0020 a0003c0004t0002g0019 a0003c0004t0002g0183 a0003c0004t0002g0187 a0003c0049t0002g0189 a0008c0013t0001g0058 a0021c0036t0001g0188 a0026c0044t0001g0196	11	69	0.1594	-54	c.11 others(65): Show c.1181_*1234delACACACACACACACACACACACACACACACACAC ACACACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SORL1_chr11_121447314_121638763	121481426	TCCTAGTG others(47): Show TCCTAGTGCACAGATACCTATAGGCAGGCTTCATCTCCTCCTCCCCAGCT CCTCC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0003 a0002c0025t0003	a0002c0025t0003g0260 a0002c0025t0003g0260	1	268	0.0037	-54	c.528 others(71): Show c.528+3236_528+3289delCCCCTAGTGCACAGATACCTATAGGCAG GCTTCATCTCCTCCTCCCCAGCTCCT	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORL1_chr11_121447314_121638763	121481805	GCACAGAT others(47): Show GCACAGATACCTATAGGCAGGCTTCATCTCCTCCTCCCCAGCTCCTCCCC TAGTA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01256.hp2 HG01258.hp1 others(38): Show HG01167.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp2 HG01993.hp2 HG02027.hp1 HG02148.hp1 HG02273.hp1 HG02300.hp1 HG02523.hp2 HG03209.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18972.hp1 NA18977.hp1 NA18983.hp1 NA18985.hp2 NA18991.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp1 NA19043.hp1 NA19056.hp2 NA19063.hp2 NA19074.hp1 NA19081.hp1 NA19083.hp2 NA19086.hp1 NA19090.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0018 a0001c0036 a0001c0042 a0002c0007 a0005c0059	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(15): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0015 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0009 a0001c0004t0022 a0001c0006t0009 a0001c0018t0002 a0001c0036t0003 a0001c0042t0002 a0002c0007t0001 a0005c0059t0002	a0001c0001t0001g0089 a0001c0002t0001g0010 a0001c0002t0001g0083 others(38): Show a0001c0001t0001g0089 a0001c0002t0001g0010 a0001c0002t0001g0083 a0001c0002t0001g0092 a0001c0002t0001g0103 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0188 a0001c0002t0002g0091 a0001c0002t0002g0109 a0001c0002t0004g0077 a0001c0002t0004g0078 a0001c0002t0004g0079 a0001c0002t0004g0085 a0001c0002t0004g0086 a0001c0002t0004g0087 a0001c0002t0004g0090 a0001c0002t0004g0093 a0001c0002t0004g0108 a0001c0002t0004g0126 a0001c0002t0004g0143 a0001c0002t0006g0020 a0001c0002t0015g0017 a0001c0003t0002g0080 a0001c0003t0002g0128 a0001c0004t0001g0082 a0001c0004t0001g0088 a0001c0004t0001g0144 a0001c0004t0003g0224 a0001c0004t0004g0011 a0001c0004t0004g0012 a0001c0004t0009g0015 a0001c0004t0022g0084 a0001c0006t0009g0200 a0001c0018t0002g0013 a0001c0018t0002g0081 a0001c0018t0002g0156 a0001c0036t0003g0266 a0001c0042t0002g0002 a0002c0007t0001g0124 a0005c0059t0002g0171	41	270	0.1519	-54	c.528 others(71): Show c.528+3616_528+3669delACACAGATACCTATAGGCAGGCTTCATC TCCTCCTCCCCAGCTCCTCCCCTAGT	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORL1_chr11_121447314_121638763	121481859	ACACAGAT others(47): Show ACACAGATACCTATAGGCAGGCTTCATCTCCTCCTCCCCAGCTCCTCCCC TAGTG	A A	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	270	0.0037	-54	c.528 others(71): Show c.528+3654_528+3707delCAGCTCCTCCCCTAGTGCACAGATACCT ATAGGCAGGCTTCATCTCCTCCTCCC	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SOX7_chr8_10718768_10735511	10733861	CTGACACA others(47): Show CTGACACAGTGTTTGTAAAAGCTCCTAGTAGACTTTTCTGAGTTGTGAAA TATGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	460	0.0022	-54	c.-34 others(65): Show c.-3482_-3429delTCATATTTCACAACTCAGAAAAGTCTACTAGGAG CTTTTACAAACACTGTGTCA	SOX7	ENSG00000171056.8	transcript	ENST00000304501.2	protein_coding		3351		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213860438	TATAGATA others(47): Show TATAGATATATGTATATATATACAGATATATCTATCTATATATATATATA CACAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp2 HG03195.hp1 HG02717.hp1 HG02922.hp2 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0043 a0003c0003t0001g0080 a0003c0003t0002g0044 a0003c0003t0001g0043 a0003c0003t0001g0080 a0003c0003t0002g0044	3	86	0.0349	-54	c.107 others(73): Show c.1071-2043_1071-1990delGATATATGTATATATATACAGATATA TCTATCTATATATATATATACACACATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA6_chr1_48290373_48477204	48384350	CAGGGAGA others(47): Show CAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAG	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18971.hp1 NA18950.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0127 a0001c0001t0003g0121 a0001c0001t0003g0127	2	73	0.0274	-54	c.909 others(69): Show c.909+905_909+958delCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCT	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPDYE10_chr7_73099008_73160431	73156134	ACACACTC others(47): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTCTC TCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	170	0.0059	-54	c.-15 others(65): Show c.-1505_-1452delAGAGAGAGAGAGAGAGAGAGACAGACAGAGAGAG AGAGAGAGAGAGAGAGTGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		704		chr7	TogoVar
SPECC1_chr17_20004359_20324026	20085853	ACCACGAC others(47): Show ACCACGACTCTGGGTACCCACGGCGGGATGCAGATGTGAGTTAGGGCCAT GCGGC	A A	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0077 a0003c0004t0009g0077	1	248	0.0040	-54	c.-21 others(73): Show c.-21-10777_-21-10724delCCACGACTCTGGGTACCCACGGCGGG ATGCAGATGTGAGTTAGGGCCATGCGGC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14			chr17	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(47): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp2 HG03579.hp1 others(1): Show HG02451.hp1 HG03195.hp2 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0039 a0001c0001t0040 others(1): Show a0001c0001t0007 a0001c0001t0039 a0001c0001t0040 a0001c0001t0090	a0001c0001t0007g0098 a0001c0001t0039g0097 a0001c0001t0040g0096 others(1): Show a0001c0001t0007g0098 a0001c0001t0039g0097 a0001c0001t0040g0096 a0001c0001t0090g0073	4	12	0.3333	-54	c.-28 others(75): Show c.-282+25669_-282+25722delATATATATATATATATATATATAT ATATATATATATATATATATATATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPSB1_chr1_9287894_9374532	9310073	CCTGTGAT others(47): Show CCTGTGATGATGCCTCTGCACCTGCCGTGGGAAGGCCACAGAGTCTAGGG GCCAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01069.hp1 others(49): Show HG00099.hp1 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02258.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19085.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0001c0001t0047 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0002t0016 a0001c0002t0025 a0001c0002t0031 a0001c0003t0002 a0001c0003t0003 a0001c0003t0013 a0001c0003t0016	a0001c0001t0001g0111 a0001c0001t0001g0139 a0001c0001t0003g0048 others(48): Show a0001c0001t0001g0111 a0001c0001t0001g0139 a0001c0001t0003g0048 a0001c0001t0003g0222 a0001c0001t0005g0102 a0001c0001t0005g0107 a0001c0001t0005g0109 a0001c0001t0005g0141 a0001c0001t0005g0191 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0228 a0001c0001t0005g0235 a0001c0001t0006g0101 a0001c0001t0006g0103 a0001c0001t0006g0129 a0001c0001t0006g0130 a0001c0001t0008g0274 a0001c0001t0011g0151 a0001c0001t0011g0229 a0001c0001t0011g0231 a0001c0001t0013g0226 a0001c0001t0014g0223 a0001c0001t0014g0224 a0001c0001t0014g0225 a0001c0001t0017g0030 a0001c0001t0017g0137 a0001c0001t0021g0152 a0001c0001t0021g0218 a0001c0001t0022g0211 a0001c0001t0023g0040 a0001c0001t0025g0356 a0001c0001t0027g0165 a0001c0001t0034g0140 a0001c0001t0035g0217 a0001c0001t0047g0205 a0001c0002t0007g0172 a0001c0002t0009g0275 a0001c0002t0009g0317 a0001c0002t0011g0138 a0001c0002t0016g0142 a0001c0002t0025g0355 a0001c0002t0031g0052 a0001c0003t0002g0002 a0001c0003t0002g0270 a0001c0003t0002g0276 a0001c0003t0003g0193 a0001c0003t0003g0194 a0001c0003t0003g0195 a0001c0003t0013g0114 a0001c0003t0016g0113	52	250	0.2080	-54	c.-15 others(75): Show c.-150+17069_-150+17122delCTCTGCACCTGCCGTGGGAAGGCC ACAGAGTCTAGGGGCCATCTGTGATGATGC	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRBD1_chr2_45383680_45616267	45414721	CACACACA others(47): Show CACACACACAGTGTGTATATAGTATGTACACACACACAGTGTGTATATAG TATGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp2 HG02922.hp1 others(5): Show HG02145.hp2 HG02486.hp2 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03516.hp1 NA19030.hp1 NA20129.hp2	a0002 a0010 a0002 a0010	a0002c0004 a0010c0009 a0002c0004 a0010c0009	a0002c0004t0001 a0010c0009t0001 a0002c0004t0001 a0010c0009t0001	a0002c0004t0001g0106 a0002c0004t0001g0107 a0002c0004t0001g0109 others(5): Show a0002c0004t0001g0106 a0002c0004t0001g0107 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0113 a0002c0004t0001g0115 a0010c0009t0001g0108	8	354	0.0226	-54	c.233 others(73): Show c.2334-1482_2334-1429delACATACTATATACACACTGTGTGTGT GTACATACTATATACACACTGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRGAP2_chr1_206198541_206469436	206372910	TCTTTCTT others(47): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT CTTTC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02293.hp2 HG03492.hp2 HG01934.hp1 HG02293.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0013 a0001c0004t0018 a0001c0002t0002 a0001c0002t0013 a0001c0004t0018	a0001c0002t0002g0072 a0001c0002t0013g0016 a0001c0004t0018g0028 a0001c0002t0002g0072 a0001c0002t0013g0016 a0001c0004t0018g0028	3	180	0.0167	-54	c.424 others(73): Show c.424-11055_424-11002delTCTTTCCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRL_chr16_4184374_4247080	4211493	ATGCTAAT others(47): Show ATGCTAATGATGAGGATCGTGATGATGATGATGGTGATGATGATGGTGAT GACCG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp1 HG02895.hp2 others(1): Show HG02280.hp1 HG02615.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0023 a0001c0001t0004 a0001c0001t0008 a0001c0001t0023	a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0008g0278 others(1): Show a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0008g0278 a0001c0001t0023g0074	4	356	0.0112	-54	c.62- others(69): Show c.62-6913_62-6860delCGGTCATCACCATCATCATCACCATCATCA TCATCACGATCCTCATCATTAGCA	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRL_chr16_4184374_4247080	4211497	TAATGATG others(47): Show TAATGATGAGGATCGTGATGATGATGATGGTGATGATGATGGTGATGACC GTGCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02145.hp2 others(5): Show HG01891.hp1 HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02896.hp1 HG03098.hp2 HG03195.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0007t0030	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0280 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0004g0269 a0001c0001t0006g0017 a0001c0001t0011g0042 a0001c0007t0030g0007	8	332	0.0241	-54	c.62- others(69): Show c.62-6917_62-6864delGGCACGGTCATCACCATCATCATCACCATC ATCATCATCACGATCCTCATCATT	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SSBP2_chr5_81407804_81756097	81437112	AATTCTGT others(47): Show AATTCTGTAAGTTTGCTTTACAAATAAGTAACATCTTAATGTGATTAAAT TTGTT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02735.hp2 HG02683.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0074 a0001c0001t0073 a0001c0001t0074	a0001c0001t0073g0176 a0001c0001t0074g0182 a0001c0001t0073g0176 a0001c0001t0074g0182	2	204	0.0098	-54	c.981 others(69): Show c.981+264_981+317delAACAAATTTAATCACATTAAGATGTTACTT ATTTGTAAAGCAAACTTACAGAAT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	15/16			chr5	TogoVar
SSC5D_chr19_55483436_55524099	55490052	CGAGGGGA others(47): Show CGAGGGGAGAGGGACTGCCCTGCCAACCCCCACCCAGCGTGCCCTCCTGC CCCCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0028 a0028	a0028c0063 a0028c0063	a0028c0063t0001 a0028c0063t0001	a0028c0063t0001g0320 a0028c0063t0001g0320	1	226	0.0044	-54	c.475 others(68): Show c.475+58_475+111delGAGGGGAGAGGGACTGCCCTGCCAACCCCCA CCCAGCGTGCCCTCCTGCCCCCA	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	4/13			chr19	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76277536	ATATATAT others(47): Show ATATATATATATATATATATATATATATATATACACACACACATATGTTT ATGTG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01192.hp2 HG01978.hp1 others(7): Show HG01074.hp2 HG01192.hp2 HG01978.hp1 HG01978.hp2 HG02809.hp2 HG02896.hp2 HG03041.hp1 HG03688.hp1 HG04184.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0026 a0002c0002t0001 a0002c0002t0008 a0002c0002t0011	a0001c0001t0002g0081 a0001c0001t0003g0077 a0001c0001t0003g0102 others(7): Show a0001c0001t0002g0081 a0001c0001t0003g0077 a0001c0001t0003g0102 a0001c0001t0004g0030 a0001c0001t0012g0100 a0001c0001t0026g0029 a0002c0002t0001g0031 a0002c0002t0001g0096 a0002c0002t0008g0035 a0002c0002t0011g0076	10	102	0.0980	-54	c.19- others(71): Show c.19-36246_19-36193delTATATATATACACACACACATATGTTTA TGTGTATATATATATATATATATATA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76277561	TATATATA others(47): Show TATATATACACACACACATATGTTTATGTGTATATATATATATATATATA TACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG02451.hp1 others(2): Show HG00639.hp1 HG00741.hp2 HG02451.hp1 HG03492.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0029 a0002c0002t0001 a0001c0001t0002 a0001c0001t0029 a0002c0002t0001	a0001c0001t0002g0088 a0001c0001t0029g0073 a0002c0002t0001g0023 others(2): Show a0001c0001t0002g0088 a0001c0001t0029g0073 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0101	5	100	0.0500	-54	c.19- others(71): Show c.19-36242_19-36189delTATATACACACACACATATGTTTATGTG TATATATATATATATATATATACACA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STARD13_chr13_33098137_33290755	33177957	GAAGGAAG others(47): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGG AAGGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0002 a0001c0004t0002g0002	1	290	0.0034	-54	c.170 others(73): Show c.170-10389_170-10336delTCCTTCCTTCCTTCCTTCCTTCCTTT CCTTCCTTCCTTCCTTCCTTCCTTCCTT	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STIM1_chr11_3850664_4098208	3895626	CTTTCTTT others(47): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC TTCCT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	248	0.0040	-54	c.139 others(73): Show c.139+39219_139+39272delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCCTTCCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895636	TTCTTTCT others(47): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTT CTTTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03540.hp2 HG02809.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0222 a0001c0001t0003g0224	2	280	0.0071	-54	c.139 others(73): Show c.139+39229_139+39282delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCTTCCTTCCTTCTTTCT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895713	TCTTTCTT others(47): Show TCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTT CCTTC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0030 a0001c0015t0030	a0001c0015t0030g0296 a0001c0015t0030g0296	1	297	0.0034	-54	c.139 others(73): Show c.139+39308_139+39361delTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTCCTTCCTTCCTTCCTTCCTTCCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STK10_chr5_172037079_172193224	172056954	GGAAAGAA others(47): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA GGAAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0017 a0001c0011t0001g0017	1	168	0.0060	-54	c.233 others(71): Show c.2337+341_2337+394delTTTCCTTCTTTCTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK38L_chr12_27239286_27330959	27241037	TTATATAT others(47): Show TTATATATATTACATATATGACTCTGTATAGTTATATATATTACATATAT GACTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01433.hp2 HG02040.hp2 others(4): Show HG00642.hp2 HG01433.hp2 HG02040.hp2 HG03453.hp2 NA18986.hp2 NA19011.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0002	a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0107 others(4): Show a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0107 a0001c0001t0003g0066 a0001c0001t0004g0062 a0001c0001t0004g0082 a0001c0003t0002g0013	7	326	0.0215	-54	c.-33 others(65): Show c.-3306_-3253delTATATATATTACATATATGACTCTGTATAGTTAT ATATATTACATATATGACTC	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3248		chr12	TogoVar
STX2_chr12_130784600_130844250	130843375	TATTATAT others(47): Show TATTATATATATTATATATACATTATATATATAATATATATAATTTATAT ATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02257.hp1 HG03209.hp2 others(4): Show HG01167.hp1 HG02257.hp1 HG03209.hp2 HG03471.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0013 a0003c0003 a0003c0013	a0003c0003t0001 a0003c0003t0003 a0003c0003t0011 others(1): Show a0003c0003t0001 a0003c0003t0003 a0003c0003t0011 a0003c0013t0001	a0003c0003t0001g0066 a0003c0003t0001g0068 a0003c0003t0003g0060 others(4): Show a0003c0003t0001g0066 a0003c0003t0001g0068 a0003c0003t0003g0060 a0003c0003t0003g0061 a0003c0003t0003g0069 a0003c0003t0011g0062 a0003c0013t0001g0065	7	378	0.0185	-54	c.-43 others(65): Show c.-4330_-4277delTATATATATAAATTATATATATTATATATATAAT GTATATATAATATATATAAT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		4126		chr12	TogoVar
STXBP3_chr1_108741674_108814523	108771934	ATCATATA others(47): Show ATCATATATAAATACATATGATATCTGTATCATATATAAATACATATGAT ATCTG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG02129.hp2 others(3): Show HG00597.hp1 HG00609.hp1 HG02129.hp2 HG02738.hp2 NA18944.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 others(3): Show a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0131 a0001c0001t0002g0139 a0001c0001t0002g0151	6	304	0.0197	-54	c.439 others(69): Show c.439-729_439-676delCATATATAAATACATATGATATCTGTATCA TATATAAATACATATGATATCTGT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUSD2_chr22_24176487_24194106	24193890	TTATTTCC others(47): Show TTATTTCCTTCTCCTGCCTAATTGCCCTGGCCAGAACTTCCAACTTTATG TTGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0050 a0003c0003t0002g0050	1	420	0.0024	-54	c.54 others(65): Show c.5455_*5508delTATTTCCTTCTCCTGCCTAATTGCCCTGGCCAGA ACTTCCAACTTTATGTTGAA	SUSD2	ENSG00000099994.11	transcript	ENST00000358321.4	protein_coding		4785		chr22	TogoVar
SV2B_chr15_91095257_91307565	91263177	CACAGAGA others(47): Show CACAGAGACACACAGACACAGAGACACATGGACACACATGAACACAGACA CACAG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0052 a0001c0004t0052	a0001c0004t0052g0005 a0001c0004t0052g0005	1	212	0.0047	-54	c.100 others(73): Show c.1008+2778_1008+2831delCACAGACACAGAGACACATGGACACA CATGAACACAGACACACAGACAGAGACA	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2B_chr15_91095257_91307565	91270793	TGGTGAAT others(47): Show TGGTGAATCCTGTGGATGATGGGGGGATGGTGAATCCTGTGGATGATGGG GGGAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2	a0001 a0003 a0001 a0003	a0001c0019 a0003c0013 a0001c0019 a0003c0013	a0001c0019t0034 a0003c0013t0002 a0001c0019t0034 a0003c0013t0002	a0001c0019t0034g0001 a0003c0013t0002g0192 a0003c0013t0002g0193 a0001c0019t0034g0001 a0003c0013t0002g0192 a0003c0013t0002g0193	3	212	0.0142	-54	c.137 others(73): Show c.1373+2211_1373+2264delGGGATGGTGAATCCTGTGGATGATGG GGGGACGGTGAATCCTGTGGATGATGGG	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2C_chr5_76078383_76338956	76172273	CGTCCGGG others(47): Show CGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCC GCCCT	C C	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0138 a0001c0002t0015g0138	1	232	0.0043	-54	c.581 others(73): Show c.581-22635_581-22582delGAGGTGGGGGGGGGGGTCAGCCCCCC CGCCCAGCCAGCCGCCCTGTCCGGGAGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SYNPR_chr3_63273308_63621924	63595733	ATATATAT others(47): Show ATATATATATATATATATATATATATATATATATATAATTTTATATATAT ATAGT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	245	0.0041	-54	c.409 others(73): Show c.409-13379_409-13326delTATATATATATATATATATATATAAT TTTATATATATATAGTTATATATATATA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TACR1_chr2_75041463_75204520	75154434	ACACACAC others(47): Show ACACACACACACACACACTCTGAAGAAACCCAGTGGAGATTCAGCACTAA CCCAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0014 a0001c0001t0007g0014	1	280	0.0036	-54	c.390 others(73): Show c.390-33720_390-33667delGTGGGTTAGTGCTGAATCTCCACTGG GTTTCTTCAGAGTGTGTGTGTGTGTGTG	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	1/4			chr2	TogoVar
TACR2_chr10_69398903_69421918	69409865	GTATATAT others(47): Show GTATATATATATATATACATATATACATATATATATATACATATATATAT ATATA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01884.hp2 NA18906.hp1 HG01168.hp1 HG01884.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0014 a0001c0012t0021 a0001c0012t0034 a0001c0001t0014 a0001c0012t0021 a0001c0012t0034	a0001c0001t0014g0123 a0001c0012t0021g0042 a0001c0012t0034g0141 a0001c0001t0014g0123 a0001c0012t0021g0042 a0001c0012t0034g0141	3	209	0.0144	-54	c.588 others(69): Show c.588-844_588-791delTATATATATATATATGTATATATATATATG TATATATGTATATATATATATATA	TACR2	ENSG00000075073.16	transcript	ENST00000373306.5	protein_coding	2/4			chr10	TogoVar
TACR3_chr4_103581031_103724985	103650663	TAAATAAA others(47): Show TAAATAAATATATATTATATCATATATAATATATATTTATATATATAAAT ATATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp2 HG01891.hp2 others(12): Show HG01070.hp1 HG01243.hp2 HG01891.hp2 HG02258.hp2 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0039	a0001c0001t0006g0244 a0001c0001t0007g0138 a0001c0001t0007g0139 others(12): Show a0001c0001t0006g0244 a0001c0001t0007g0138 a0001c0001t0007g0139 a0001c0001t0007g0141 a0001c0001t0007g0144 a0001c0001t0007g0145 a0001c0001t0007g0146 a0001c0001t0007g0153 a0001c0001t0007g0242 a0001c0001t0008g0140 a0001c0001t0008g0148 a0001c0001t0008g0150 a0001c0001t0014g0142 a0001c0001t0014g0143 a0001c0001t0039g0149	15	278	0.0540	-54	c.888 others(71): Show c.888+5477_888+5530delTATATATTTATATATATAAATATATATT ATATATGATATAATATATATTTATTT	TACR3	ENSG00000169836.5	transcript	ENST00000304883.3	protein_coding	3/4			chr4	TogoVar
TAF4B_chr18_26221445_26396685	26346769	ATATATGT others(47): Show ATATATGTGTGTGTATATATATATATATATGTGTATATATATATATATGT GTGTG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0269 a0004c0007t0002g0269	1	237	0.0042	-54	c.231 others(75): Show c.2317-10915_2317-10862delGTGTGTGTATATATATATATATAT GTGTATATATATATATATGTGTGTGTATAT	TAF4B	ENSG00000141384.13	transcript	ENST00000269142.10	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
TALDO1_chr11_742464_770012	747756	GCGGGGCC others(47): Show GCGGGGCCCGGGTCGGCCGTGAGAGGCGCAGGGCCAGCGGCGACCGTGAG GGGAA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	414	0.0024	-54	c.97+ others(67): Show c.97+201_97+254delAGGCGCAGGGCCAGCGGCGACCGTGAGGGGAA CGGGGCCCGGGTCGGCCGTGAG	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TAPBPL_chr12_6447042_6467316	6465360	ATATATAT others(47): Show ATATATATATATAAATGTATATATATGTATATATATATATAAATGTATAT ATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02897.hp1 others(4): Show HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp1 HG03486.hp2 HG03579.hp2 NA18906.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0003 a0002c0007t0001 a0002c0007t0003	a0002c0007t0001g0042 a0002c0007t0001g0088 a0002c0007t0003g0031 others(1): Show a0002c0007t0001g0042 a0002c0007t0001g0088 a0002c0007t0003g0031 a0002c0007t0003g0089	7	458	0.0153	-54	c.32 others(65): Show c.3212_*3265delTATATATATATAAATGTATATATATGTATATATA TATATAAATGTATATATATG	TAPBPL	ENSG00000139192.12	transcript	ENST00000266556.8	protein_coding		3045		chr12	TogoVar
TAPT1_chr4_16155505_16231471	16228680	AAAAAAAA others(47): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAGAAGAGGAAGCAGCC GTGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 NA18993.hp2 NA19081.hp1 HG01175.hp1 NA18993.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0007 a0001c0001t0001g0259 a0001c0001t0001g0260	3	380	0.0079	-54	c.-22 others(65): Show c.-2277_-2224delGGCACGGCTGCTTCCTCTTCTTCTTTTCTTTTTT TTTTTTTTTTTTTTTTTTTT	TAPT1	ENSG00000169762.17	transcript	ENST00000405303.7	protein_coding		2210		chr4	TogoVar
TARBP2_chr12_53496283_53511431	53498908	CTGTGTGT others(47): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(38): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00733.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01257.hp2 HG01496.hp2 HG02055.hp1 HG02074.hp1 HG02165.hp1 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03130.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03831.hp1 HG04115.hp1 NA18945.hp1 NA18948.hp2 NA18954.hp2 NA18964.hp2 NA18987.hp1 NA18999.hp2 NA19002.hp2 NA19058.hp2 NA19068.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010	41	42	0.9762	-54	c.-25 others(65): Show c.-2500_-2447delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTG	TARBP2	ENSG00000139546.12	transcript	ENST00000266987.7	protein_coding		2374		chr12	TogoVar
TBC1D14_chr4_6904826_7038114	7019695	TGCTGGGC others(47): Show TGCTGGGCTCAGGTTAGGGAGGACTCTGGGGCACAGAGGTGGGTATGTGA ACCCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG02145.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0301 a0001c0001t0003g0063 a0001c0001t0003g0301	2	302	0.0066	-54	c.175 others(73): Show c.1757+5152_1757+5205delTAGGGAGGACTCTGGGGCACAGAGGT GGGTATGTGAACCCCGCTGGGCTCAGGT	TBC1D14	ENSG00000132405.19	transcript	ENST00000409757.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr4	TogoVar

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