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
SERPINI1_chr3_167730721_167830569	167759400	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19030.hp1 NA18989.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0110 a0001c0004t0001g0195 a0001c0001t0001g0110 a0001c0004t0001g0195	2	123	0.0163	32	c.-19 others(51): Show c.-19+23598_-19+23599insATATATATATATATATATATATATAT ATATAT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERTM1_chr13_36669020_36702839	36678679	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18960.hp2 NA18989.hp1 others(2): Show HG03139.hp1 NA18960.hp2 NA18989.hp1 NA19064.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0020 a0001c0001t0002g0054 a0001c0001t0002g0056	5	381	0.0131	32	c.-17 others(51): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA TATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SETD1B_chr12_121799009_121837656	121834987	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01928.hp1 HG02683.hp1 others(3): Show HG01433.hp2 HG01928.hp1 HG02683.hp1 HG03669.hp2 HG03831.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0043 a0001c0002t0001g0071 others(3): Show a0001c0002t0001g0019 a0001c0002t0001g0043 a0001c0002t0001g0071 a0001c0002t0001g0086 a0001c0002t0001g0100 a0001c0002t0001g0114	6	115	0.0522	32	c.47 others(43): Show c.4748_*4749insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		2332		chr12	TogoVar
SETD2_chr3_47011436_47169113	47049912	A A	ATTTATAT others(25): Show ATTTATATATTATATATAAACTTATTCTATAAG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	306	0.0033	32	c.696 others(51): Show c.6964-3323_6964-3292dupCTTATAGAATAAGTTTATATATAATA TATAAA	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	15/20			chr3	TogoVar
SETD3_chr14_99392748_99485859	99403453	A A	ACTCTCTC others(25): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	257	0.0039	32	c.117 others(49): Show c.1177+771_1177+772insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	11/12			chr14	TogoVar
SETD5_chr3_9392615_9483154	9445962	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0171 a0001c0001t0017g0171	1	204	0.0049	32	c.152 others(49): Show c.1524+224_1524+225insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD7_chr4_139501038_139561219	139547593	T T	TGATGGAT others(25): Show TGATGGATTTCTACTGTTGATTTTATAATATCG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0261 a0001c0001t0016g0261	1	314	0.0032	32	c.41- others(45): Show c.41-545_41-544insCGATATTATAAAATCAACAGTAGAAATCCATC	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding	1/7			chr4	TogoVar
SEZ6L_chr22_26164462_26388596	26244163	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp2 HG02040.hp1 others(2): Show HG01928.hp1 HG01928.hp2 HG02040.hp1 HG02300.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0217 others(2): Show a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0217 a0001c0001t0003g0214 a0001c0001t0005g0056	5	187	0.0267	32	c.95- others(49): Show c.95-48220_95-48219insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26278999	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0003 a0013c0020t0003	a0013c0020t0003g0213 a0013c0020t0003g0213	1	123	0.0081	32	c.95- others(49): Show c.95-13397_95-13396insAAGGAAGGAAGGAAGGAAAGACGGAAGG AAGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348565	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAGGGAGGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp1 HG02055.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0004 a0001c0008t0001 a0001c0003t0004 a0001c0008t0001	a0001c0003t0004g0209 a0001c0008t0001g0160 a0001c0003t0004g0209 a0001c0008t0001g0160	2	145	0.0138	32	c.240 others(49): Show c.2407+655_2407+656insGGAAGGAAGGAAGGGAGGAAAGAAAGAA AGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0154 a0001c0002t0002g0154	1	12	0.0833	32	c.495 others(47): Show c.495+274_495+275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31562983	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0038 a0006c0038	a0006c0038t0001 a0006c0038t0001	a0006c0038t0001g0038 a0006c0038t0001g0038	1	156	0.0064	32	c.765 others(49): Show c.765+1610_765+1611insATATATATATATATATATATATATATAT ATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31612426	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA19057.hp1 HG03491.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0118 a0002c0002t0001g0068 a0002c0002t0001g0118	2	253	0.0079	32	c.249 others(49): Show c.2490+587_2490+588insTATATATATATATATATATATATATATA TAAA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52928639	T T	TATATATA others(25): Show TATATATATATATACATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	326	0.0031	32	c.898 others(47): Show c.898-299_898-298insGTATATATATGTATATATGTATATATATAT AT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	8/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52928645	T T	TATATATA others(25): Show TATATATATATACACATATATACATATATACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0170 a0001c0001t0007g0170	1	323	0.0031	32	c.898 others(47): Show c.898-305_898-304insGTGTATATATGTATATATGTGTATATATAT AT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	8/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01361.hp2 HG02293.hp1 others(1): Show HG00673.hp1 HG01361.hp2 HG02293.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0043 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0003t0001g0197	4	121	0.0331	32	c.124 others(49): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01123.hp2 others(12): Show HG00738.hp2 HG01069.hp1 HG01123.hp2 HG02056.hp2 HG02155.hp1 HG02965.hp1 HG02976.hp1 HG03209.hp2 HG04184.hp2 NA18994.hp2 NA18995.hp1 NA19011.hp1 NA19063.hp2 NA19084.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0114 a0001c0001t0001g0116 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0002t0001g0285	15	47	0.3191	32	c.240 others(51): Show c.2409-2641_2409-2640insTATATATATATATATATATATATATA TATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	33	0.0303	32	c.240 others(51): Show c.2409-2670_2409-2669insTTATATATATATATATATATATATAT ATATAT	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTTTTTAT others(25): Show TTTTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	33	0.0303	32	c.240 others(51): Show c.2409-2670_2409-2669insTTTTATATATATATATATATATATAT ATATAT	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131796027	G G	GGGAGGGG others(25): Show GGGAGGGGGAGGGGAGGGGAGAGGGGGGAGGGA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	315	0.0032	32	c.253 others(51): Show c.2535-1144_2535-1143insGAGGGGAGGGGAGAGGGGGGAGGGAG GAGGGG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131796047	A A	AGGGGGAG others(25): Show AGGGGGAGGGGAGGGGGGGAGGGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	309	0.0032	32	c.253 others(51): Show c.2535-1116_2535-1115insGGGAGGGGAGAGGAGAGGGGGGAGGG GAGGGG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFTA2_chr6_30926353_30937170	30933451	T T	TCCTCCCT others(25): Show TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0007 a0002c0003t0003g0007	1	372	0.0027	32	c.-13 others(43): Show c.-1356_-1355insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	SFTA2	ENSG00000196260.5	transcript	ENST00000359086.4	protein_coding		1282		chr6	TogoVar
SFXN5_chr2_72937036_73076712	73047241	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0113 a0001c0008t0001g0113	1	168	0.0060	32	c.172 others(49): Show c.172-6311_172-6310insGTATATATATATATATATATATATATAT ATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047247	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	236	0.0042	32	c.172 others(49): Show c.172-6317_172-6316insGTGTGTGTATATATATATATATATATAT ATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047249	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	233	0.0043	32	c.172 others(49): Show c.172-6350_172-6319dupGTGTGTATATATATATATATATATATAT ATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047253	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	233	0.0043	32	c.172 others(49): Show c.172-6323_172-6322insGTGTGTATATATATATATATATATATAT ATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCACAC others(25): Show GCGCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	71	0.0141	32	c.171 others(49): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCAC others(25): Show GCGCGCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18948.hp2 NA18964.hp2 HG03927.hp1 NA18948.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0073 a0001c0002t0001g0084 a0001c0002t0001g0059 a0001c0002t0001g0073 a0001c0002t0001g0084	3	73	0.0411	32	c.171 others(49): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGTGTGTGTG CGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0144 a0001c0001t0016g0144	1	73	0.0137	32	c.192 others(49): Show c.192+5587_192+5588insATATATATATATATATATATATATATAT ATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCG_chr13_23175979_23330162	23275120	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA19011.hp2 NA19079.hp2 HG00099.hp2 NA19011.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0010 a0001c0001t0001 a0001c0002t0001 a0001c0003t0010	a0001c0001t0001g0186 a0001c0002t0001g0271 a0001c0003t0010g0136 a0001c0001t0001g0186 a0001c0002t0001g0271 a0001c0003t0010g0136	3	109	0.0275	32	c.386 others(49): Show c.386-4216_386-4215insTATATATATATATATATATATATATATA TATA	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCG_chr13_23175979_23330162	23314382	T T	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18946.hp1 NA18970.hp1 others(4): Show HG03516.hp2 NA18946.hp1 NA18970.hp1 NA18980.hp2 NA19011.hp1 NA19065.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0003t0011	a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0194 others(4): Show a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0194 a0001c0001t0005g0122 a0001c0001t0005g0134 a0001c0002t0002g0006 a0001c0003t0011g0316	7	31	0.2258	32	c.579 others(49): Show c.579-6254_579-6253insTTATATATATATATATATATATATATAT ATAT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAAG others(25): Show AAAGAAAGAAGGAAAGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03209.hp1 HG01515.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0203 a0001c0001t0019g0094 a0001c0001t0001g0203 a0001c0001t0019g0094	2	21	0.0952	32	c.75- others(47): Show c.75-2165_75-2164insAGAAAGAAGGAAAGAAGGGAGGGAGGGAGG GA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAGG others(25): Show AAAGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	20	0.0500	32	c.75- others(47): Show c.75-2165_75-2164insAGAAGGGAGGGAGGGAGGGAGGGAGGGAGG GA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGGAGG others(25): Show AAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	20	0.0500	32	c.75- others(47): Show c.75-2165_75-2164insAGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAGGAAAG others(25): Show AAGGAAAGAAAGAAGGAAAGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	20	0.0500	32	c.75- others(47): Show c.75-2163_75-2162insAAAGAAAGAAGGAAAGAAGGGAGGGAGGGA GG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66659950	A A	AAGAAAAA others(25): Show AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG02056.hp1 others(1): Show HG00642.hp1 HG00733.hp1 HG02056.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0239 a0002c0002t0003g0241 a0002c0002t0003g0268 others(1): Show a0002c0002t0003g0239 a0002c0002t0003g0241 a0002c0002t0003g0268 a0002c0002t0003g0279	4	193	0.0207	32	c.460 others(47): Show c.460-562_460-561insGAAAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660011	A A	AAGGAAAG others(25): Show AAGGAAAGAAAGAAAGAAAGAAAGACAGGAAGG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0269 a0002c0002t0030g0269	1	216	0.0046	32	c.460 others(47): Show c.460-502_460-501insAGGAAAGAAAGAAAGAAAGAAAGACAGGAA GG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24			chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660016	C C	CAGGAAGG others(25): Show CAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03669.hp1 NA18956.hp2 HG02896.hp1 HG03669.hp1 NA18956.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0037 a0002c0003t0003 a0002c0003t0005 a0001c0001t0037 a0002c0003t0003 a0002c0003t0005	a0001c0001t0037g0073 a0002c0003t0003g0150 a0002c0003t0005g0137 a0001c0001t0037g0073 a0002c0003t0003g0150 a0002c0003t0005g0137	3	70	0.0429	32	c.460 others(47): Show c.460-472_460-471insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(25): Show GAAAAGAAAGAAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	63	0.0159	32	c.286 others(51): Show c.286-24983_286-24982insTTCTCTCTCTCTCTCTCTCTCTTCTT TCTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66726801	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG02559.hp1 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0012 a0001c0002t0003g0017 a0001c0002t0003g0012 a0001c0002t0003g0017	2	64	0.0313	32	c.-12 others(53): Show c.-122+13990_-122+13991insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50574963	G G	GTATATAT others(25): Show GTATATATATATATATGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	22	0.0455	32	c.-58 others(53): Show c.-589+15189_-589+15190insTATATATATATATACACATATATA TATATATA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGMS2_chr4_107819932_107920047	107902289	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0237 a0001c0002t0023g0237	1	190	0.0053	32	c.574 others(47): Show c.574-932_574-931insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SGMS2	ENSG00000164023.15	transcript	ENST00000690982.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
SGPP2_chr2_222419543_222567621	222422285	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG04204.hp2 NA19003.hp1 HG03516.hp1 HG04204.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0030 a0001c0001t0001 a0001c0001t0021 a0001c0001t0030	a0001c0001t0001g0116 a0001c0001t0021g0045 a0001c0001t0030g0131 a0001c0001t0001g0116 a0001c0001t0021g0045 a0001c0001t0030g0131	3	50	0.0600	32	c.-23 others(43): Show c.-2318_-2317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SGSM1_chr22_24801211_24932578	24900385	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0044 a0003c0021t0044	a0003c0021t0044g0164 a0003c0021t0044g0164	1	327	0.0031	32	c.261 others(51): Show c.2611-1425_2611-1424insTTCTTTCTGTCTTTCTTTCTTTCTTT CTTTCT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18979.hp2 NA19063.hp1 others(1): Show NA18970.hp2 NA18979.hp2 NA19063.hp1 NA19072.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0004c0011t0001 a0001c0001t0001 a0001c0001t0002 a0004c0011t0001	a0001c0001t0001g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 others(1): Show a0001c0001t0001g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0004c0011t0001g0151	4	169	0.0237	32	c.57+ others(47): Show c.57+1044_57+1045insTATATATATATATATATATATATATATATA TA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2D1B_chr1_162390268_162417136	162416424	A A	AAGAAAAA others(25): Show AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 NA18956.hp2 NA18967.hp2 others(7): Show HG03041.hp1 NA18956.hp2 NA18967.hp2 NA18993.hp2 NA19010.hp2 NA19057.hp2 NA19064.hp2 NA19068.hp2 NA19083.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0109 a0001c0001t0002g0151 a0001c0001t0002g0001 a0001c0001t0002g0109 a0001c0001t0002g0151	10	104	0.0962	32	c.-44 others(43): Show c.-4409_-4408insCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4289		chr1	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	62	0.0161	32	c.-34 others(41): Show c.-340_-339insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar
SH2D4B_chr10_80532902_80651560	80533379	C C	CTCCTCTC others(25): Show CTCCTCTCCCTCTCCCTCTCCCTCTCCCCACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0004 a0018c0029t0004	a0018c0029t0004g0032 a0018c0029t0004g0032	1	320	0.0031	32	c.-49 others(43): Show c.-4953_-4952insTCCTCTCCCTCTCCCTCTCCCTCTCCCCACGG	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding		4522		chr10	TogoVar
SH2D7_chr15_78087561_78109362	78089517	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	254	0.0039	32	c.-30 others(43): Show c.-3068_-3067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SH2D7	ENSG00000183476.13	transcript	ENST00000328828.6	protein_coding		3043		chr15	TogoVar
SH3BGR_chr21_39446970_39520504	39499255	C C	CATCTATC others(25): Show CATCTATCTATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01261.hp2 HG01978.hp2 others(10): Show HG00408.hp2 HG01261.hp2 HG01978.hp2 HG03654.hp2 HG03704.hp2 HG04184.hp2 NA18950.hp2 NA18960.hp2 NA18981.hp2 NA19005.hp1 NA19006.hp2 NA19077.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0059 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0214	13	153	0.0850	32	c.313 others(47): Show c.313-564_313-563insATCTATCTATCTATCTATCTATCTATCTAT CT	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr21	TogoVar

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