Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LARGE1_chr22_33267509_33925476	33355629	TCTCAAAA others(144): Show TCTCAAAAGTAGATCTTCTAACTCCTCCTGGACCACCCTTTCTCTGCCTA GCCCTCCGGCTTTCTGAGGCCCAGTGTTAATATCATGCACCTGAGCCTTC TATAGGGGAGGCTCTCAGTTAGTGGCTCAATGTCCATGGTCGCCAAATAC TG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG00741.hp2 others(23): Show HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01257.hp1 HG01517.hp1 HG01884.hp1 HG02055.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02683.hp2 HG02818.hp1 HG02970.hp1 HG03098.hp2 HG03491.hp2 HG03540.hp2 HG03654.hp2 HG04228.hp1 NA18906.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0014 a0004c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0002t0001 a0001c0002t0003 a0001c0002t0021 a0001c0002t0022 a0001c0003t0009 a0001c0003t0011 a0001c0004t0004 a0001c0009t0009 a0001c0014t0012 a0004c0015t0001	a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0057 others(23): Show a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0003g0051 a0001c0001t0005g0023 a0001c0001t0005g0027 a0001c0001t0017g0074 a0001c0001t0024g0101 a0001c0001t0026g0091 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0003g0003 a0001c0002t0021g0099 a0001c0002t0022g0103 a0001c0003t0009g0001 a0001c0003t0009g0016 a0001c0003t0011g0063 a0001c0004t0004g0077 a0001c0009t0009g0049 a0001c0014t0012g0086 a0004c0015t0001g0019	26	110	0.2364	-151	c.113 others(21): Show c.1132-17979_1132-17829del	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	9/14			chr22	TogoVar
LOC400499_chr16_11367015_11532247	11486699	TGGGTGGT others(144): Show TGGGTGGTAGGATGAATAGATGATGGGTGGGTGGATGAATGGATAATGGG TGGGTGGGTGGATGGATGAATGGATAATGGGTGGGTGGGTGGGTGGTTGG ATGAATGGATGATGGGCGGGCGGGTGGGTGGTTGGATGAACGGATGATGG GC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00597.hp2 others(23): Show HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG02027.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02559.hp2 HG02647.hp2 HG03209.hp2 HG03490.hp1 HG03579.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18974.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19057.hp2	a0001 a0013 a0014 others(15): Show a0001 a0013 a0014 a0016 a0025 a0039 a0057 a0068 a0069 a0070 a0071 a0072 a0073 a0100 a0148 a0149 a0165 a0166	a0001c0001 a0001c0062 a0013c0064 others(17): Show a0001c0001 a0001c0062 a0013c0064 a0013c0106 a0014c0011 a0016c0010 a0025c0020 a0039c0037 a0057c0060 a0068c0066 a0069c0061 a0070c0104 a0071c0105 a0072c0063 a0073c0065 a0100c0059 a0148c0101 a0149c0167 a0165c0168 a0166c0179	a0001c0001t0003 a0001c0062t0004 a0013c0064t0003 others(17): Show a0001c0001t0003 a0001c0062t0004 a0013c0064t0003 a0013c0106t0004 a0014c0011t0001 a0016c0010t0002 a0025c0020t0003 a0039c0037t0004 a0057c0060t0001 a0068c0066t0001 a0069c0061t0001 a0070c0104t0001 a0071c0105t0004 a0072c0063t0002 a0073c0065t0002 a0100c0059t0007 a0148c0101t0002 a0149c0167t0010 a0165c0168t0002 a0166c0179t0002	a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0247 others(23): Show a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0247 a0001c0001t0003g0256 a0001c0062t0004g0255 a0013c0064t0003g0172 a0013c0106t0004g0140 a0014c0011t0001g0173 a0014c0011t0001g0205 a0016c0010t0002g0251 a0016c0010t0002g0265 a0025c0020t0003g0088 a0025c0020t0003g0089 a0039c0037t0004g0042 a0057c0060t0001g0254 a0068c0066t0001g0203 a0069c0061t0001g0076 a0070c0104t0001g0110 a0071c0105t0004g0249 a0072c0063t0002g0074 a0073c0065t0002g0067 a0100c0059t0007g0276 a0148c0101t0002g0142 a0149c0167t0010g0041 a0165c0168t0002g0095 a0166c0179t0002g0017	26	310	0.0839	-151	c.201 others(17): Show c.2013+412_2013+562del	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	15/66			chr16	TogoVar
MACROD2_chr20_13990516_16058197	15708604	CTGGCTCA others(144): Show CTGGCTCACACCTGTGATTTCAGCACTTTGGGAGCGAGGCAGTAGGATTG CTTAAGGCCAGGAGTTCAAGACCAGTCTGGGCACAATATCAAAACCCCAT CTCTACAAATAAAAAATAAATAAATTAGCTGGGCATGGTAGACTGGACTT GG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0006 a0001c0001t0013g0006	1	24	0.0417	-151	c.646 others(21): Show c.646-154123_646-153973del	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAP3K15_chrX_19355059_19520508	19452200	GAAGAGAA others(144): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0030	1	163	0.0061	-151	c.995 others(17): Show c.995+4562_995+4712del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19452230	GAAGAGAA others(144): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAAGAGAAGAGAAGAGAAGAGAAGAGAGA AA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0003 a0007c0022t0003	a0007c0022t0003g0079 a0007c0022t0003g0079	1	163	0.0061	-151	c.995 others(17): Show c.995+4532_995+4682del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MUC4_chr3_195741771_195816929	195760493	AGGGGGCT others(144): Show AGGGGGCTGGGAAGGCATCCAGCGCTAGGATGGATGGAGGGGGCTGGGAA GGGGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGC TAGTATGGAGTGAAGGGGGCTGGGAAGGCATCCAGCGCTAGGATGGACGG AG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00741.hp2 others(20): Show HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01167.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG02155.hp2 HG02602.hp1 HG02615.hp1 HG02723.hp1 HG03017.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp2 NA18955.hp1 NA18974.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1	a0007 a0015 a0016 others(16): Show a0007 a0015 a0016 a0064 a0065 a0078 a0079 a0081 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0090 a0091 a0092 a0096	a0007c0007 a0015c0023 a0016c0024 others(16): Show a0007c0007 a0015c0023 a0016c0024 a0064c0195 a0065c0196 a0078c0193 a0079c0192 a0081c0189 a0083c0190 a0084c0187 a0085c0188 a0086c0185 a0087c0184 a0088c0180 a0089c0182 a0090c0186 a0091c0181 a0092c0183 a0096c0130	a0007c0007t0003 a0015c0023t0003 a0016c0024t0003 others(16): Show a0007c0007t0003 a0015c0023t0003 a0016c0024t0003 a0064c0195t0003 a0065c0196t0003 a0078c0193t0003 a0079c0192t0004 a0081c0189t0011 a0083c0190t0004 a0084c0187t0003 a0085c0188t0003 a0086c0185t0003 a0087c0184t0003 a0088c0180t0003 a0089c0182t0003 a0090c0186t0003 a0091c0181t0003 a0092c0183t0003 a0096c0130t0004	a0007c0007t0003g0152 a0007c0007t0003g0154 a0007c0007t0003g0209 others(20): Show a0007c0007t0003g0152 a0007c0007t0003g0154 a0007c0007t0003g0209 a0015c0023t0003g0210 a0015c0023t0003g0212 a0016c0024t0003g0219 a0016c0024t0003g0221 a0064c0195t0003g0207 a0065c0196t0003g0208 a0078c0193t0003g0213 a0079c0192t0004g0242 a0081c0189t0011g0206 a0083c0190t0004g0241 a0084c0187t0003g0216 a0085c0188t0003g0218 a0086c0185t0003g0217 a0087c0184t0003g0215 a0088c0180t0003g0204 a0089c0182t0003g0223 a0090c0186t0003g0220 a0091c0181t0003g0214 a0092c0183t0003g0205 a0096c0130t0004g0238	23	249	0.0924	-151	c.148 others(19): Show c.14848+240_14848+390del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MUC5AC_chr11_1152953_1206138	1159702	TGGGGCTG others(144): Show TGGGGCTGTGTGGGGCTGTGCGGGGCTGGGGTCTGGTCCCACCATGCTGG CTCTATGCAGGGCTGTGCGGGGCTGGGGTCTGGTCCCACCATGCTGGCTC TGTGCAGGGCTGTGCAGGGCTGGCGTCTGGCCCCACCATGCTGGTTCTGT GC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02818.hp2 HG02922.hp1 HG01891.hp2 HG02818.hp2 HG02922.hp1	a0017 a0032 a0017 a0032	a0017c0040 a0017c0041 a0032c0042 a0017c0040 a0017c0041 a0032c0042	a0017c0040t0003 a0017c0041t0002 a0032c0042t0001 a0017c0040t0003 a0017c0041t0002 a0032c0042t0001	a0017c0040t0003g0228 a0017c0041t0002g0226 a0032c0042t0001g0227 a0017c0040t0003g0228 a0017c0041t0002g0226 a0032c0042t0001g0227	3	292	0.0103	-151	c.74- others(13): Show c.74-890_74-740del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	1/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYMX_chr6_44211926_44223234	44213339	TCACGCCA others(144): Show TCACGCCATTGCACTCCAGCGTGGGCAACAAAAAAAAGAAAAGAAAAGAA TAAAATAAAATAAAAGAGATTGCAAAACGTTTTTCTTTACCTTTTTTTTT TCAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGCGATC TC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02280.hp2 HG02622.hp2 others(8): Show HG01243.hp2 HG02280.hp2 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03195.hp1 HG03471.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0002 a0004c0004t0002 a0003c0003t0002 a0004c0004t0002	a0003c0003t0002g0004 a0004c0004t0002g0004 a0003c0003t0002g0004 a0004c0004t0002g0004	11	434	0.0254	-151	c.-36 others(11): Show c.-3651_-3501del	MYMX	ENSG00000262179.3	transcript	ENST00000573382.3	protein_coding		3586		chr6	TogoVar
NEU4_chr2_241804193_241822413	241807344	CCTCAGCC others(144): Show CCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAG GGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	319	0.0031	-151	c.-19 others(11): Show c.-1933_-1783del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1848		chr2	TogoVar
NME7_chr1_169127531_169372797	169342607	GTATATAT others(144): Show GTATATATATATACAAGTACATATATATAGTATATATATATACAAGTACA TATATATATAGTATATATATATACAAGTACATATATATAGTATATATATA TACAAGTACATATATATATAGTATATATATATACAAGTACATATATATAG TA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03471.hp2 NA20300.hp2 HG02622.hp1 HG03471.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0136 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0136	3	302	0.0099	-151	c.4-1 others(15): Show c.4-18258_4-18108del	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NXN_chr17_794310_984776	894135	CAAACGCC others(144): Show CAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGA GGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCT GGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCT CA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG01081.hp1 others(12): Show HG00323.hp1 HG00544.hp2 HG01081.hp1 HG01243.hp1 HG01257.hp1 HG01433.hp1 HG01978.hp2 HG02451.hp1 HG02486.hp1 HG02735.hp2 HG04184.hp1 HG06807.hp1 NA18939.hp2 NA18972.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0031 a0001c0009t0013	a0001c0001t0001g0075 a0001c0001t0001g0110 a0001c0001t0001g0203 others(12): Show a0001c0001t0001g0075 a0001c0001t0001g0110 a0001c0001t0001g0203 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0002g0067 a0001c0001t0003g0070 a0001c0001t0003g0180 a0001c0001t0005g0161 a0001c0001t0006g0184 a0001c0001t0006g0202 a0001c0001t0031g0238 a0001c0009t0013g0196	15	242	0.0620	-151	c.361 others(19): Show c.361-68208_361-68058del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948939	TGCCTCCT others(144): Show TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGGCTCCTCCTC TCCCCCCGGGCTCCTCCTCTCCCCCCGGGCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCC CG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG02922.hp2 others(7): Show HG00099.hp1 HG00642.hp1 HG02922.hp2 HG03579.hp2 HG03834.hp1 NA18995.hp1 NA18999.hp1 NA19011.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0022 a0001c0002t0004 a0002c0005t0004 a0002c0005t0009	a0001c0001t0001g0049 a0001c0001t0001g0071 a0001c0001t0002g0103 others(7): Show a0001c0001t0001g0049 a0001c0001t0001g0071 a0001c0001t0002g0103 a0001c0001t0002g0112 a0001c0001t0003g0198 a0001c0001t0006g0144 a0001c0001t0022g0151 a0001c0002t0004g0228 a0002c0005t0004g0197 a0002c0005t0009g0199	10	242	0.0413	-151	c.360 others(19): Show c.360+30229_360+30379del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODF2L_chr1_86341837_86401323	86385847	TATTTATA others(144): Show TATTTATAAATAAAATTCCAAGTGATATGGAAACTCTTTAATTGGCAGCT TTTCTCTTTCTTTGTAAAACATAACGGCTCATTAACAACTGATGGCATCT TAGAGGCTATGTCAAAAATCTGTGTGTTCTTAAGCACAACTGGCTTAAAG TA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01243.hp1 HG02040.hp2 others(36): Show HG00609.hp2 HG01243.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02132.hp2 HG02523.hp1 HG02698.hp2 HG02738.hp1 HG04115.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18960.hp2 NA18965.hp1 NA18968.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18984.hp2 NA18988.hp2 NA18990.hp2 NA18997.hp2 NA18999.hp1 NA19058.hp1 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19075.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0010 a0002c0004t0003 a0002c0004t0010	a0002c0004t0003g0002 a0002c0004t0003g0011 a0002c0004t0003g0027 others(24): Show a0002c0004t0003g0002 a0002c0004t0003g0011 a0002c0004t0003g0027 a0002c0004t0003g0028 a0002c0004t0003g0029 a0002c0004t0003g0060 a0002c0004t0003g0061 a0002c0004t0003g0062 a0002c0004t0003g0063 a0002c0004t0003g0064 a0002c0004t0003g0065 a0002c0004t0003g0066 a0002c0004t0003g0067 a0002c0004t0003g0068 a0002c0004t0003g0069 a0002c0004t0003g0070 a0002c0004t0003g0071 a0002c0004t0003g0072 a0002c0004t0003g0073 a0002c0004t0003g0074 a0002c0004t0003g0075 a0002c0004t0003g0076 a0002c0004t0003g0077 a0002c0004t0003g0078 a0002c0004t0003g0079 a0002c0004t0003g0080 a0002c0004t0010g0187	39	406	0.0961	-151	c.114 others(15): Show c.114-408_114-258del	ODF2L	ENSG00000122417.16	transcript	ENST00000460698.7	protein_coding	2/16			chr1	TogoVar
OSBPL2_chr20_62233521_62301183	62270676	CCCTCTCT others(144): Show CCCTCTCTGGGTCCTCTCCTTGTCCCTCTCTGGCCTCTCTGGGTCCTCTC CTTGTCCCTCTCTGGCCTCTCTGGGTCCTCTCCTTGTCCCTCTCTGGGTC CTCTCCTTGTCCCTCTCTGGCCTCTCTGGGTCCTCTCCTTGTCCCTCTCT GG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp2 others(128): Show HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp2 NA18983.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0002t0008	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(126): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0002g0083 a0001c0001t0002g0092 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0133 a0001c0001t0002g0156 a0001c0001t0005g0003 a0001c0001t0005g0012 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0180 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0214 a0001c0001t0005g0216 a0001c0001t0005g0219 a0001c0001t0011g0184 a0001c0001t0011g0185 a0001c0001t0012g0182 a0001c0001t0012g0183 a0001c0001t0018g0132 a0001c0001t0023g0087 a0001c0001t0025g0217 a0001c0001t0026g0146 a0001c0002t0008g0223 a0001c0002t0008g0224 a0001c0002t0008g0225	131	348	0.3764	-151	c.259 others(17): Show c.259-1416_259-1266del	OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
OSBPL2_chr20_62233521_62301183	62270699	CCCTCTCT others(144): Show CCCTCTCTGGCCTCTCTGGGTCCTCTCCTTGTCCCTCTCTGGCCTCTCTG GGTCCTCTCCTTGTCCCTCTCTGGGTCCTCTCCTTGTCCCTCTCTGGCCT CTCTGGGTCCTCTCCTTGTCCCTCTCTGGCCTCTCTGGGTCCTCTCCTTG TC	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00642.hp1 others(23): Show HG00099.hp2 HG00280.hp1 HG00642.hp1 HG00733.hp2 HG01069.hp2 HG01099.hp2 HG01106.hp1 HG01361.hp1 HG01517.hp2 HG01934.hp1 HG02083.hp2 HG03130.hp2 HG03209.hp1 HG03704.hp1 NA18945.hp1 NA18949.hp2 NA18961.hp1 NA18964.hp2 NA18980.hp1 NA19001.hp2 NA19004.hp2 NA19009.hp1 NA19056.hp1 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0028	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0084 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0190 a0001c0001t0002g0118 a0001c0001t0005g0003 a0001c0001t0005g0026 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0215 a0001c0001t0005g0218 a0001c0001t0005g0220 a0001c0001t0015g0024 a0001c0001t0028g0086	26	348	0.0747	-151	c.259 others(17): Show c.259-1416_259-1266del	OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK6_chr15_101298933_101494707	101311786	CCCCTCAC others(144): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATGGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0048 a0001c0003t0001g0048	1	336	0.0030	-151	c.269 others(19): Show c.2699+1439_2699+1589del	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDXK_chr21_43714129_43767299	43741256	CGGGGGGC others(144): Show CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGG GCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCG CG	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18952.hp1 HG02015.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0266 a0001c0001t0001g0267	2	358	0.0056	-151	c.143 others(15): Show c.143-381_143-231del	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKP3_chr11_389209_409908	400777	CCCCCGCC others(144): Show CCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGCCCCGCTCACCCCGG ACCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCCGCTCACACCCGCCC CGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCT CA	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	216	0.0046	-151	c.173 others(16): Show c.1737+77_1737+227del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCXD1_chrX_276381_308356	298152	TCTATCAC others(144): Show TCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGT CTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTC TATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCT CC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01361.hp2 HG02165.hp1 others(4): Show HG00438.hp1 HG01361.hp2 HG02165.hp1 NA18947.hp2 NA18972.hp2 NA19011.hp2 NA19090.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0012 a0001c0001 a0001c0002 a0007c0012	a0001c0001t0001 a0001c0001t0007 a0001c0001t0028 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0028 a0001c0001t0061 a0001c0001t0071 a0001c0002t0039 a0007c0012t0005	a0001c0001t0001g0005 a0001c0001t0007g0121 a0001c0001t0028g0070 others(4): Show a0001c0001t0001g0005 a0001c0001t0007g0121 a0001c0001t0028g0070 a0001c0001t0061g0033 a0001c0001t0071g0052 a0001c0002t0039g0127 a0007c0012t0005g0001	7	176	0.0398	-151	c.734 others(15): Show c.734-943_734-793del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLEKHN1_chr1_961482_980865	964575	GGCTGTGG others(144): Show GGCTGTGGGAGGGGTCCGCGCGTCCGCAGTGGGGATGTGCTGCGGGGAGG GGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTC CGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGAT GT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 NA18522.hp1 HG01243.hp1 NA18522.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0011 a0001c0011t0005 a0001c0011t0011	a0001c0011t0005g0009 a0001c0011t0011g0009 a0001c0011t0005g0009 a0001c0011t0011g0009	2	422	0.0047	-151	c.-19 others(11): Show c.-1956_-1806del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1906		chr1	TogoVar
PLEKHN1_chr1_961482_980865	964623	GGGGGGCG others(144): Show GGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGG TCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGG ATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGG GA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00741.hp1 HG01109.hp1 others(32): Show HG00673.hp1 HG00741.hp1 HG01109.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01891.hp2 HG01943.hp1 HG02055.hp1 HG02155.hp1 HG02559.hp2 HG02630.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG03195.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp2 NA18906.hp1 NA18949.hp1 NA18954.hp1 NA18963.hp2 NA18980.hp1 NA19005.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19068.hp2 NA19079.hp2 NA19081.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0012 a0016	a0001c0009 a0001c0012 a0002c0002 others(8): Show a0001c0009 a0001c0012 a0002c0002 a0002c0006 a0002c0008 a0002c0017 a0003c0003 a0003c0005 a0008c0016 a0012c0035 a0016c0052	a0001c0009t0002 a0001c0012t0003 a0001c0012t0013 others(16): Show a0001c0009t0002 a0001c0012t0003 a0001c0012t0013 a0002c0002t0002 a0002c0002t0025 a0002c0006t0006 a0002c0006t0009 a0002c0008t0001 a0002c0008t0006 a0002c0008t0031 a0002c0017t0006 a0002c0017t0025 a0003c0003t0002 a0003c0003t0005 a0003c0003t0013 a0003c0005t0004 a0008c0016t0004 a0012c0035t0004 a0016c0052t0039	a0001c0009t0002g0024 a0001c0012t0003g0026 a0001c0012t0013g0066 others(21): Show a0001c0009t0002g0024 a0001c0012t0003g0026 a0001c0012t0013g0066 a0002c0002t0002g0064 a0002c0002t0025g0062 a0002c0006t0006g0005 a0002c0006t0006g0059 a0002c0006t0006g0067 a0002c0006t0009g0065 a0002c0008t0001g0028 a0002c0008t0006g0005 a0002c0008t0006g0027 a0002c0008t0006g0028 a0002c0008t0006g0029 a0002c0008t0031g0005 a0002c0017t0006g0005 a0002c0017t0025g0007 a0003c0003t0002g0007 a0003c0003t0005g0007 a0003c0003t0013g0007 a0003c0005t0004g0025 a0008c0016t0004g0014 a0012c0035t0004g0063 a0016c0052t0039g0027	35	422	0.0829	-151	c.-19 others(11): Show c.-1908_-1758del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1858		chr1	TogoVar
PLEKHN1_chr1_961482_980865	964631	CGGGTCCG others(144): Show CGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGT GGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTG CCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGG CG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG01255.hp1 others(23): Show HG00423.hp1 HG00609.hp2 HG01255.hp1 HG01361.hp2 HG01496.hp1 HG02071.hp1 HG02132.hp2 HG02273.hp2 HG02523.hp2 HG03579.hp1 HG03927.hp2 NA18612.hp2 NA18940.hp2 NA18944.hp2 NA18952.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18999.hp2 NA19056.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19087.hp1 NA19089.hp2	a0004 a0006 a0009 others(2): Show a0004 a0006 a0009 a0011 a0021	a0004c0004 a0004c0028 a0004c0031 others(8): Show a0004c0004 a0004c0028 a0004c0031 a0004c0056 a0004c0057 a0004c0058 a0006c0013 a0006c0054 a0009c0020 a0011c0032 a0021c0055	a0004c0004t0001 a0004c0004t0003 a0004c0004t0012 others(10): Show a0004c0004t0001 a0004c0004t0003 a0004c0004t0012 a0004c0028t0001 a0004c0031t0001 a0004c0056t0003 a0004c0057t0003 a0004c0058t0003 a0006c0013t0007 a0006c0054t0007 a0009c0020t0003 a0011c0032t0003 a0021c0055t0008	a0004c0004t0001g0106 a0004c0004t0003g0002 a0004c0004t0003g0013 others(16): Show a0004c0004t0001g0106 a0004c0004t0003g0002 a0004c0004t0003g0013 a0004c0004t0003g0016 a0004c0004t0003g0126 a0004c0004t0003g0156 a0004c0004t0012g0002 a0004c0028t0001g0129 a0004c0028t0001g0154 a0004c0031t0001g0110 a0004c0056t0003g0016 a0004c0057t0003g0016 a0004c0058t0003g0002 a0006c0013t0007g0002 a0006c0013t0007g0109 a0006c0054t0007g0112 a0009c0020t0003g0002 a0011c0032t0003g0002 a0021c0055t0008g0127	26	422	0.0616	-151	c.-19 others(11): Show c.-1900_-1750del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1850		chr1	TogoVar
PPP1R12B_chr1_202343699_202597702	202391732	GAATTATC others(144): Show GAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACT GAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTT CAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAAT GA	G G	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0180 a0001c0001t0091g0180	1	254	0.0039	-151	c.292 others(19): Show c.292-25053_292-24903del	PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM15_chr21_41793225_41884344	41806116	ACCACCAC others(144): Show ACCACCACCATCACCACCACCATCACCACCACCACCACCATCACCATCAC CACCACCATCACCACCACCACCATCACCACCACCACCATCACCATCACCA TCACCATCACCACCATCACTACCACCATCACCACCACCACCATCACCACC AC	A A	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0294 a0001c0004t0003g0294	1	406	0.0025	-151	c.265 others(19): Show c.2653-1653_2653-1503del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41806156	TCACCATC others(144): Show TCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCATC ACCATCACCATCACCATCACCACCATCACTACCACCATCACCACCACCAC CATCACCACCACCCATCACCACCACCACCATCACCATCACCACCACCATC AC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02055.hp1 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0049 a0001c0002t0002g0050	2	406	0.0049	-151	c.265 others(19): Show c.2653-1693_2653-1543del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41806235	TACCACCA others(144): Show TACCACCATCACCACCACCACCATCACCACCACCCATCACCACCACCACC ATCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCAT CACCATCACCACCACCATCACCACCACCACCATCACTACCACCATCACCA CC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01358.hp1 HG01496.hp2 others(5): Show HG01175.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01934.hp1 HG02738.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0182 a0001c0001t0011g0194 a0001c0001t0011g0202 others(5): Show a0001c0001t0011g0182 a0001c0001t0011g0194 a0001c0001t0011g0202 a0001c0001t0011g0205 a0001c0001t0011g0206 a0001c0001t0011g0231 a0001c0001t0011g0232 a0001c0001t0011g0268	8	406	0.0197	-151	c.265 others(19): Show c.2653-1772_2653-1622del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRKAG2_chr7_151551127_151882115	151855337	ACACACAC others(144): Show ACACACACCATGCTCCACACACACCGCCCTCCACACACACCGCCCTCCAC ACACACCATCCACACACCACCCTCCACATACACCATGCTCCACACACACC GCCCTCCACACACACCATCCTCCACACACACCATGCTCCACACACCACCC TC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18945.hp1 HG01884.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0129 a0001c0001t0004g0247 a0001c0001t0002g0129 a0001c0001t0004g0247	2	252	0.0079	-151	c.114 others(19): Show c.114+21019_114+21169del	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PTPRD_chr9_8309246_10618002	8903741	TCTCTACC others(144): Show TCTCTACCTTTAAAAAATTATGGGAAATTTGATTACTATTTAAAAGACTA CTCTGTAAAGCAATATCCTACAAGTGAATTGCATAAAGTTCATGGTAATA ATGGTTGACTTAAATATTGTTTTATGTTCCACATATTTACATATTTATAT CC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG02559.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0009 a0001c0005t0001g0019 a0001c0002t0001g0009 a0001c0005t0001g0019	2	34	0.0588	-151	c.-10 others(23): Show c.-104+114805_-104+114955del	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
RHOT1_chr17_32137502_32230727	32179840	GGGAGCGC others(144): Show GGGAGCGCCTCTACCTGGCTGCCCCATCTGGGAAATGGGAAGCGCCTCTG CCCGGCCACCCCATCTGGGAAGTGAGGAGCGCCTCTGCCCAGCTGACACC CCATCTGGGATGTGAGGAGCACCTCTGCCCGGCCGCCCCGTCTGGGAAGT GA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02559.hp2 others(19): Show HG01884.hp2 HG02055.hp2 HG02559.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0011	a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 others(18): Show a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0013 a0001c0002t0001g0017 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0003t0001g0019 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0020 a0001c0003t0002g0021 a0001c0003t0003g0001 a0001c0003t0003g0014 a0001c0003t0003g0015 a0001c0003t0003g0016 a0001c0003t0011g0018	22	284	0.0775	-151	c.330 others(17): Show c.330-2905_330-2755del	RHOT1	ENSG00000126858.19	transcript	ENST00000545287.7	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1076747	CGGGGACT others(144): Show CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0002 a0003c0004t0001g0002	1	324	0.0031	-151	c.-28 others(11): Show c.-2892_-2742del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2442		chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288494	CCCGTGTC others(144): Show CCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCC GT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp1 HG00738.hp1 HG01496.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0270 a0006c0010t0007g0274 a0006c0010t0007g0270 a0006c0010t0007g0274	2	290	0.0069	-151	c.166 others(17): Show c.1662+460_1662+610del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHC2_chr19_411589_466033	427727	GGAAGGGG others(144): Show GGAAGGGGGAACTGCACACGGCGCAGGGAAGGGGAATTGCGCACGGCACA GGTAAGGGGACAGGGGACGGCGCACAGCACACGGAAGGGGGCGGCACAGG GAAGGGGGAACTGCACACGGCACAGGGAAGGGGGAACTGCACACGGCACA GA	G G	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	212	0.0047	-151	c.117 others(19): Show c.1175-2647_1175-2497del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SIGIRR_chr11_400716_419999	400777	CCCCCGCC others(144): Show CCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGCCCCGCTCACCCCGG ACCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCCGCTCACACCCGCCC CGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCT CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	242	0.0041	-151	c.49 others(11): Show c.4968_*5118del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4938		chr11	TogoVar
SIRT3_chr11_210030_241342	220768	CACAGCAT others(144): Show CACAGCATTTACCCTTCAGGAGTACTTGCATGGGTAGATAAGGATGACAC ACAGGGATATTCACCGGAAGGCAAGTTCTCAGTATTTATCAGCATTTACC CTTCCAGAGTACTTGCATGGGTAGATAAGGATGATACACAGGGATATTCA CT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG01081.hp2 others(78): Show HG00099.hp2 HG00423.hp2 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01975.hp2 HG02080.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18965.hp2 NA18966.hp1 NA18978.hp1 NA18984.hp1 NA18987.hp1 NA19000.hp2 NA19007.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19070.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0008 a0001c0001 a0002c0002 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0002c0002t0003 a0002c0002t0007 a0002c0002t0012 a0002c0002t0015 a0006c0008t0008	a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 others(40): Show a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0003g0170 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0005g0053 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0008g0180 a0001c0001t0008g0181 a0002c0002t0003g0002 a0002c0002t0003g0010 a0002c0002t0003g0028 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0206 a0002c0002t0003g0207 a0002c0002t0003g0208 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0211 a0002c0002t0003g0212 a0002c0002t0003g0213 a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0217 a0002c0002t0003g0218 a0002c0002t0003g0219 a0002c0002t0003g0221 a0002c0002t0003g0222 a0002c0002t0007g0016 a0002c0002t0007g0060 a0002c0002t0012g0216 a0002c0002t0015g0220 a0006c0008t0008g0051	81	414	0.1957	-151	c.970 others(17): Show c.970-1878_970-1728del	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding	5/6			chr11	TogoVar
SKI_chr1_2223319_2315213	2281208	AGGACGCC others(144): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG GC	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0198 a0001c0001t0005g0198	1	330	0.0030	-151	c.970 others(19): Show c.970-21767_970-21617del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281251	AGAGATGC others(144): Show AGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACG CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAG AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG GC	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	330	0.0030	-151	c.970 others(19): Show c.970-21725_970-21575del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC19A1_chr21_45507565_45547440	45524625	GTCCTGAG others(144): Show GTCCTGAGCGTTCACCCCCGGGCCTCGGAGACTCACCTGCCCTGAACGTT CACCCCTGGGCTTCGGAGGCTCACCCGCCCTGAGTGTTCACCCCTGGGCC TCGGAGACTCACCTGCCCTAAGCGTTCACCCCTGGGCCTTGGAGGCTCAT CA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0257 a0002c0002t0002g0257	1	318	0.0031	-151	c.129 others(19): Show c.1293+1041_1293+1191del	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	5/5			chr21	TogoVar
SLC66A2_chr18_79897420_79956653	79920200	AGGAACCG others(144): Show AGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGA GAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGA CG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp2 HG02293.hp1 others(2): Show HG01255.hp2 HG02109.hp2 HG02293.hp1 HG02559.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010	a0001c0001t0005g0187 a0001c0001t0007g0278 a0001c0001t0008g0258 others(2): Show a0001c0001t0005g0187 a0001c0001t0007g0278 a0001c0001t0008g0258 a0001c0001t0010g0163 a0001c0001t0010g0174	5	352	0.0142	-151	c.392 others(15): Show c.392-951_392-801del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920993	AGGAGAGA others(144): Show AGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGG AACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGA GGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGT GG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0132	1	352	0.0028	-151	c.392 others(17): Show c.392-1744_392-1594del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921022	AGCTCAGT others(144): Show AGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGG AGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACC GAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTC AG	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	352	0.0028	-151	c.392 others(17): Show c.392-1773_392-1623del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921068	GAGGAGAG others(144): Show GAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGG AACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGA GGTCAGGGTCAGAGGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGGTCA GT	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18947.hp1 HG02155.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0121 a0001c0001t0009g0130 a0001c0001t0004g0121 a0001c0001t0009g0130	2	352	0.0057	-151	c.392 others(17): Show c.392-1819_392-1669del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC9A3_chr5_465456_529449	487211	GCACTGAC others(144): Show GCACTGACACCCACCACACTGACACCGTGATCCAGACCGCACTGACACCC ACCACACTGACACCCACCGCACTGACACCCACCACACTGACACCGTGATC CAGACCGCACTGACACCCACCACACTGACACCCACCGCACTGACACCCAC CA	G G	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	1	218	0.0046	-151	c.675 others(16): Show c.675+954_675+1104del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SMOC1_chr14_69874416_70037366	69924771	GGTAGGGG others(144): Show GGTAGGGGAGGTAAGGGAGGTAGGGGAGGTAGGGGAGCTAGGGGAGGTAA AGGAGGAGGAGAGGTAGGGGAGGTAGGGGAGCTAGGGGAGGCAGGGGAGC TAGGGGAGCTAGGGGAGGTAGGAGAGGTAGGGGAGGAGGAGAGGTAGGGG AA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	270	0.0037	-151	c.100 others(19): Show c.100-27318_100-27168del	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443353	TGAGTGTG others(144): Show TGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGA TGGAGTTTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGC TCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGG GA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA19000.hp2 NA19080.hp1 HG03688.hp1 NA19000.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0022 a0001c0001t0011 a0001c0001t0022	a0001c0001t0011g0146 a0001c0001t0011g0251 a0001c0001t0022g0323 a0001c0001t0011g0146 a0001c0001t0011g0251 a0001c0001t0022g0323	3	344	0.0087	-151	c.113 others(17): Show c.113-8200_113-8050del	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443355	AGTGTGTG others(144): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGATG GAGTTTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTC ACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGA GG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	344	0.0029	-151	c.113 others(17): Show c.113-8202_113-8052del	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SSH2_chr17_29620938_29935228	29895598	ATATTTTA others(144): Show ATATTTTATATATACATTTTATATATGAAATATATAAAATATATTTTATA TACACATTTTATATATGAAATATATAAAATATATTTTATATACACATTTT ATATATGAAATATATAAAATATATTTTATATACACATTTCATATATAAAA TG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18964.hp1 HG04204.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0030 a0001c0001t0025g0070 a0001c0001t0001g0030 a0001c0001t0025g0070	2	232	0.0086	-151	c.63+ others(17): Show c.63+34189_63+34339del	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
TFB1M_chr6_155251134_155319484	155305256	ATTAAATT others(144): Show ATTAAATTATATATTTATATATATATATTAAATTATATATTTATATATAT AAACATATATTAAATTATATATTTATATATATAAATATATATTAAATTGT ATATTTATATATATAAATATATATTAAATTGTATATTTATATATATAAAT AT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	348	0.0029	-151	c.285 others(17): Show c.285+5781_285+5931del	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TMEM229B_chr14_67465269_67493721	67465302	ATAGGGGC others(144): Show ATAGGGGCCGAAGGCCCAGAGGCAGTGAACGGGAGCTGCAGGGAGAACTA CAAGTCAGTCTCCCTGGATGGCACAGGGCTGGGGCAGAGGCGAGAAATGA GGCCAAACCACAAAAGGTTTGTAAGCCTCGCTAAGGTGTCGAGCTTGATC CT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00735.hp2 HG01255.hp1 HG00597.hp2 HG00735.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0030 a0001c0001t0013g0162 a0001c0001t0013g0175 a0001c0001t0003g0030 a0001c0001t0013g0162 a0001c0001t0013g0175	3	442	0.0068	-151	c.79 others(11): Show c.7967_*8117del	TMEM229B	ENSG00000198133.9	transcript	ENST00000554480.6	protein_coding		4966		chr14	TogoVar
TNK2_chr3_195858364_195913551	195880568	GCCCCCCA others(144): Show GCCCCCCAGCAATGCCCCTCGGAGAGGACACAGCATCTATCCCTGTAACA CCCCCCCAGCAATGCCCCTTGAAGAGGACACAGCATATATCCCTGTATCA CCTAACTCAGCAATGACCCTCGGAGAGGACACAGCATCTATCCCTGTAAC AC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0010 a0010	a0010c0059 a0010c0059	a0010c0059t0001 a0010c0059t0001	a0010c0059t0001g0021 a0010c0059t0001g0021	1	372	0.0027	-151	c.887 others(17): Show c.887+1332_888-1394del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195880926	CCCCCAGC others(144): Show CCCCCAGCAATGCCCCTTGGAGAGGACACAGCGTCTATCCCTGTAACACC CGCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTCTAACA CCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCCTCTAA CA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01934.hp1 HG02145.hp2 others(16): Show HG01192.hp1 HG01934.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02717.hp2 HG02723.hp2 HG02922.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0002 a0002c0008 a0002c0057 others(2): Show a0001c0002 a0002c0008 a0002c0057 a0006c0025 a0008c0016	a0001c0002t0001 a0002c0008t0001 a0002c0057t0004 others(2): Show a0001c0002t0001 a0002c0008t0001 a0002c0057t0004 a0006c0025t0001 a0008c0016t0001	a0001c0002t0001g0003 a0001c0002t0001g0183 a0001c0002t0001g0212 others(14): Show a0001c0002t0001g0003 a0001c0002t0001g0183 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0002c0008t0001g0219 a0002c0057t0004g0236 a0006c0025t0001g0216 a0008c0016t0001g0004 a0008c0016t0001g0224	19	372	0.0511	-151	c.887 others(16): Show c.887+974_887+1124del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar

Search by Variant

Search

Search Results