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
PTPRO_chr12_15317508_15603331	15448339	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19012.hp2 NA19056.hp2 HG04184.hp1 NA19012.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0126 a0001c0002t0001g0019 a0001c0002t0001g0087 a0001c0001t0001g0126 a0001c0002t0001g0019 a0001c0002t0001g0087	3	28	0.1071	21	c.76- others(38): Show c.76-35634_76-35614dupAAAAAAAAAAAAAAAAAAAAA	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRR_chr12_70633079_70925738	70821213	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01261.hp1 HG01261.hp2 others(7): Show HG00735.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG02027.hp1 NA18941.hp2 NA18964.hp2 NA19065.hp1 NA19085.hp2 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0058 a0001c0001t0001g0112 a0001c0001t0001g0119 others(7): Show a0001c0001t0001g0058 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0143 a0001c0001t0001g0155 a0001c0001t0001g0191 a0001c0001t0001g0200 a0002c0002t0001g0141 a0004c0005t0001g0165	10	15	0.6667	21	c.358 others(40): Show c.358-56456_358-56436dupAAAAAAAAAAAAAAAAAAAAA	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	2/13			chr12	TogoVar
PTPRT_chr20_42067756_43194906	42086751	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0025 a0002c0001t0025	a0002c0001t0025g0002 a0002c0001t0025g0002	1	17	0.0588	21	c.384 others(38): Show c.3847-899_3847-898insATATATATATATATATATATA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42184535	C C	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03017.hp1 HG02155.hp1 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0003 a0002c0005t0012 a0001c0003t0003 a0002c0005t0012	a0001c0003t0003g0033 a0002c0005t0012g0010 a0001c0003t0003g0033 a0002c0005t0012g0010	2	38	0.0526	21	c.249 others(42): Show c.2491+14704_2491+14705insAGAAGAAGAAGAAGAAGAAGA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	16/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42184541	C C	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01261.hp1 others(1): Show HG00738.hp1 HG00741.hp2 HG01261.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0014 a0001c0002t0022 a0002c0004t0002 others(1): Show a0001c0002t0014 a0001c0002t0022 a0002c0004t0002 a0002c0004t0010	a0001c0002t0014g0052 a0001c0002t0022g0055 a0002c0004t0002g0001 others(1): Show a0001c0002t0014g0052 a0001c0002t0022g0055 a0002c0004t0002g0001 a0002c0004t0010g0027	4	14	0.2857	21	c.249 others(42): Show c.2491+14698_2491+14699insAGAAGAAGAAGAAGAAGAAGA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	16/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42648820	G G	GTTGTTTT others(14): Show GTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03195.hp1 HG02896.hp2 HG02897.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0001 a0001c0007 a0002c0001	a0001c0007t0004 a0002c0001t0011 a0001c0007t0004 a0002c0001t0011	a0001c0007t0004g0062 a0002c0001t0011g0019 a0002c0001t0011g0020 a0001c0007t0004g0062 a0002c0001t0011g0019 a0002c0001t0011g0020	3	25	0.1200	21	c.115 others(42): Show c.1153+29045_1153+29046insAAAAAAAAAAAAAAAAAACAA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRU_chr1_29231522_29331800	29277803	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02055.hp2 HG03579.hp1 others(1): Show HG01071.hp1 HG02055.hp2 HG03579.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0162 a0001c0003t0001g0163 a0002c0002t0001g0159 others(1): Show a0001c0003t0001g0162 a0001c0003t0001g0163 a0002c0002t0001g0159 a0002c0002t0001g0164	4	9	0.4444	21	c.145 others(40): Show c.1454-1196_1454-1176dupTTTTTTTTTTTTTTTTTTTTT	PTPRU	ENSG00000060656.20	transcript	ENST00000373779.8	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPRZ1_chr7_121868161_122067036	122023558	T T	TGTATAAT others(14): Show TGTATAATTTTATATATAATTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02055.hp1 others(8): Show HG01069.hp2 HG01071.hp2 HG02055.hp1 HG02109.hp2 HG02486.hp2 HG02630.hp1 HG03225.hp2 HG03486.hp2 NA18522.hp2 NA19240.hp2 NA20129.hp1	a0004 a0007 a0004 a0007	a0004c0005 a0004c0013 a0007c0034 a0004c0005 a0004c0013 a0007c0034	a0004c0005t0001 a0004c0005t0003 a0004c0013t0001 others(1): Show a0004c0005t0001 a0004c0005t0003 a0004c0013t0001 a0007c0034t0004	a0004c0005t0001g0041 a0004c0005t0001g0043 a0004c0005t0001g0117 others(8): Show a0004c0005t0001g0041 a0004c0005t0001g0043 a0004c0005t0001g0117 a0004c0005t0001g0118 a0004c0005t0001g0260 a0004c0005t0001g0262 a0004c0005t0001g0263 a0004c0005t0001g0265 a0004c0005t0003g0013 a0004c0013t0001g0261 a0007c0034t0004g0214	11	310	0.0355	21	c.498 others(40): Show c.4988+4290_4988+4291insGTATAATTTTATATATAATTA	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	13/29			chr7	TogoVar
PTRH1_chr9_127708807_127720663	127719798	C C	CAGCTATC others(14): Show CAGCTATCTGAGTTTTCTACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	346	0.0029	21	c.-41 others(32): Show c.-4180_-4160dupATGTAGAAAACTCAGATAGCT	PTRH1	ENSG00000187024.15	transcript	ENST00000543175.5	protein_coding		4136		chr9	TogoVar
PTTG1IP2_chr7_90464639_90518397	90497744	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	382	0.0026	21	c.50 others(38): Show c.50+3314_*50+3315insAAAAAAAAAAAAAAAAAAAAG	PTTG1IP2	ENSG00000251154.2	transcript	ENST00000509356.2	protein_coding	6/6			chr7	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	95	0.0211	21	c.364 others(40): Show c.364-10121_364-10120insAAATATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp2 HG02559.hp1 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0011 a0001c0002t0010g0027 a0001c0002t0001g0011 a0001c0002t0010g0027	2	95	0.0211	21	c.364 others(40): Show c.364-10121_364-10120insAAAAATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	94	0.0106	21	c.364 others(40): Show c.364-10121_364-10120insAAAAAAATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG00639.hp2 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0078 a0001c0001t0001g0044 a0001c0001t0001g0078	2	95	0.0211	21	c.364 others(40): Show c.364-10121_364-10120insAAAAAAAAATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18970.hp1 NA18980.hp1 others(2): Show HG03704.hp1 NA18970.hp1 NA18980.hp1 NA18998.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0116 a0001c0001t0004g0117 a0001c0001t0004g0126 others(2): Show a0001c0001t0002g0116 a0001c0001t0004g0117 a0001c0001t0004g0126 a0001c0001t0004g0175 a0001c0001t0004g0263	5	98	0.0510	21	c.364 others(40): Show c.364-10121_364-10120insAAAAAAAAAAAAATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02129.hp1 HG02165.hp1 HG02015.hp2 HG02129.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0173 a0001c0001t0004g0058 a0001c0001t0004g0127 a0001c0001t0001g0173 a0001c0001t0004g0058 a0001c0001t0004g0127	3	96	0.0313	21	c.364 others(40): Show c.364-10121_364-10120insAAAAAAAAAAAAAAATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	94	0.0106	21	c.364 others(40): Show c.364-10121_364-10120insAAAAAAAAAAAAAAAAATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20264367	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	143	0.0070	21	c.195 others(38): Show c.1958-908_1958-907insATATATATATATATATATATA	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG01109.hp1 others(14): Show HG00408.hp1 HG00642.hp1 HG01109.hp1 HG01496.hp1 HG02071.hp2 HG02257.hp1 HG02895.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03491.hp1 NA18522.hp1 NA19010.hp1 NA19062.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0002t0001	a0001c0001t0001g0095 a0001c0001t0001g0137 a0001c0001t0001g0213 others(14): Show a0001c0001t0001g0095 a0001c0001t0001g0137 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0003g0197 a0001c0001t0008g0228 a0001c0001t0008g0261 a0001c0001t0009g0157 a0001c0001t0015g0229 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0327	17	22	0.7727	21	c.195 others(40): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM3_chr9_2799152_2849095	2821443	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01168.hp2 HG01169.hp2 others(10): Show HG01074.hp2 HG01168.hp2 HG01169.hp2 HG02056.hp1 HG02109.hp2 HG02273.hp1 HG02572.hp1 HG03710.hp2 NA18941.hp1 NA18979.hp1 NA19060.hp2 NA19070.hp2 NA19091.hp2	a0003 a0008 a0003 a0008	a0003c0004 a0008c0012 a0003c0004 a0008c0012	a0003c0004t0001 a0008c0012t0001 a0003c0004t0001 a0008c0012t0001	a0003c0004t0001g0029 a0003c0004t0001g0032 a0003c0004t0001g0161 others(8): Show a0003c0004t0001g0029 a0003c0004t0001g0032 a0003c0004t0001g0161 a0003c0004t0001g0162 a0003c0004t0001g0163 a0003c0004t0001g0169 a0003c0004t0001g0170 a0003c0004t0001g0171 a0003c0004t0001g0173 a0008c0012t0001g0088 a0008c0012t0001g0167	13	189	0.0688	21	c.118 others(40): Show c.1189-1346_1189-1345insTTTTTTTTTTTTTTTTTTTTT	PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	12/17			chr9	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0001 a0002c0002t0003g0001	1	193	0.0052	21	c.11 others(34): Show c.11568_*11569insATATATATATATATATATTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0042 a0002c0002t0003g0042	1	193	0.0052	21	c.11 others(34): Show c.11568_*11569insATATATATATATATATATATT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7_chr7_105451503_105527271	105505003	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02683.hp2 HG03710.hp1 others(2): Show HG02109.hp1 HG02683.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0314 others(2): Show a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0016g0311	5	325	0.0154	21	c.585 others(36): Show c.585+951_585+952insAAAAAAAAAAAAAAAAAAAAA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	4/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105509184	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0064 a0001c0001t0011g0064	1	8	0.1250	21	c.-32 others(36): Show c.-32-661_-32-641dupTTTTTTTTTTTTTTTTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PVALB_chr22_36795703_36822035	36821788	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	387	0.0026	21	c.-47 others(32): Show c.-4784_-4783insAAAAAAAAAAAAAAAAAAAAA	PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding		4754		chr22	TogoVar
PWWP2A_chr5_160086339_160124450	160109772	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	323	0.0031	21	c.584 others(38): Show c.584+9032_584+9033insATATATATATATATATATATA	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PXDNL_chr8_51314577_51814445	51675711	C C	CAAACCCG others(14): Show CAAACCCGGGAGGCAGAGGTTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02818.hp1 others(3): Show HG02257.hp1 HG02451.hp2 HG02818.hp1 HG02922.hp1 HG03130.hp2 HG03209.hp1	a0001 a0002 a0017 others(1): Show a0001 a0002 a0017 a0029	a0001c0001 a0002c0002 a0017c0017 others(1): Show a0001c0001 a0002c0002 a0017c0017 a0029c0047	a0001c0001t0001 a0002c0002t0001 a0017c0017t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0017c0017t0001 a0029c0047t0001	a0001c0001t0001g0072 a0002c0002t0001g0028 a0002c0002t0001g0071 others(3): Show a0001c0001t0001g0072 a0002c0002t0001g0028 a0002c0002t0001g0071 a0002c0002t0001g0073 a0017c0017t0001g0074 a0029c0047t0001g0075	6	120	0.0500	21	c.165 others(40): Show c.165-20972_165-20952dupCAACCTCTGCCTCCCGGGTTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1688829	A A	ATAATTAT others(14): Show ATAATTATAATATTTATATTAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02004.hp1 HG02273.hp1 others(3): Show HG01928.hp2 HG02004.hp1 HG02273.hp1 HG02280.hp2 HG02602.hp1 HG04115.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0036 a0006c0025 a0001c0001 a0004c0036 a0006c0025	a0001c0001t0001 a0004c0036t0003 a0006c0025t0020 a0001c0001t0001 a0004c0036t0003 a0006c0025t0020	a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0168 others(3): Show a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0179 a0004c0036t0003g0036 a0006c0025t0020g0172	6	320	0.0188	21	c.345 others(38): Show c.345-1127_345-1126insATAATATAAATATTATAATTA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	3/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1702974	A A	ACAACTCC others(14): Show ACAACTCCAGATGAAGGGTGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG01993.hp1 others(13): Show HG01109.hp1 HG01891.hp1 HG01993.hp1 HG02451.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0012 a0001c0014 a0001c0039 a0002c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0002t0003 a0001c0004t0004 a0001c0006t0004 a0001c0006t0013 a0001c0012t0017 a0001c0014t0013 a0001c0039t0006 a0002c0009t0011	a0001c0001t0002g0211 a0001c0001t0004g0302 a0001c0001t0009g0039 others(13): Show a0001c0001t0002g0211 a0001c0001t0004g0302 a0001c0001t0009g0039 a0001c0001t0010g0165 a0001c0001t0010g0166 a0001c0001t0010g0208 a0001c0002t0003g0131 a0001c0004t0004g0209 a0001c0004t0004g0312 a0001c0006t0004g0286 a0001c0006t0013g0310 a0001c0012t0017g0167 a0001c0014t0013g0145 a0001c0014t0013g0246 a0001c0039t0006g0045 a0002c0009t0011g0081	16	317	0.0505	21	c.201 others(38): Show c.201-9841_201-9840insCCCACCCTTCATCTGGAGTTG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1703465	A A	ACAACTCC others(14): Show ACAACTCCAGGTGAAGGGGGGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	307	0.0033	21	c.201 others(40): Show c.201-10352_201-10332dupCCCCCCCTTCACCTGGAGTTG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1703818	G G	GGGGGGGG others(14): Show GGGGGGGGCAACTCCAGGTGAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0319 a0001c0001t0022g0319	1	318	0.0031	21	c.201 others(40): Show c.201-10685_201-10684insTTCACCTGGAGTTGCCCCCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1703848	G G	GCTCCAGG others(14): Show GCTCCAGGTGAAGGGAGGGCAA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0102 a0001c0002t0003g0102	1	134	0.0075	21	c.201 others(40): Show c.201-10715_201-10714insTTGCCCTCCCTTCACCTGGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1704631	A A	ACTCCAGG others(14): Show ACTCCAGGTGAAGGGGGGGCAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00609.hp2 others(30): Show HG00438.hp2 HG00544.hp1 HG00609.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02165.hp2 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18955.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18991.hp2 NA19005.hp2 NA19007.hp1 NA19062.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19084.hp1 NA19087.hp2	a0001 a0009 a0013 others(1): Show a0001 a0009 a0013 a0014	a0001c0001 a0001c0002 a0001c0008 others(5): Show a0001c0001 a0001c0002 a0001c0008 a0001c0015 a0001c0035 a0009c0027 a0013c0038 a0014c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0002t0003 a0001c0008t0002 a0001c0015t0003 a0001c0035t0003 a0009c0027t0002 a0013c0038t0001 a0014c0031t0002	a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0225 others(30): Show a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0225 a0001c0001t0001g0240 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0266 a0001c0001t0002g0277 a0001c0001t0012g0272 a0001c0001t0012g0278 a0001c0002t0003g0098 a0001c0002t0003g0100 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0239 a0001c0008t0002g0202 a0001c0008t0002g0273 a0001c0008t0002g0276 a0001c0008t0002g0320 a0001c0015t0003g0118 a0001c0035t0003g0099 a0009c0027t0002g0129 a0013c0038t0001g0238 a0014c0031t0002g0120	33	320	0.1031	21	c.201 others(40): Show c.201-11518_201-11498dupCTGCCCCCCCTTCACCTGGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1719911	A A	AGGGATGC others(14): Show AGGGATGCAGAGAGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01981.hp2 HG02148.hp1 others(2): Show HG01928.hp1 HG01981.hp2 HG02148.hp1 NA18980.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0002g0177 others(2): Show a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0002g0177 a0001c0001t0005g0175 a0001c0001t0009g0178	5	319	0.0157	21	c.200 others(40): Show c.200+24344_200+24345insCTCCCTCTCTCTCTGCATCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXK_chr3_58327892_58431127	58336071	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0055 a0003c0003t0002g0055	1	248	0.0040	21	c.102 others(38): Show c.102+2982_102+2983insATATATATATATATATATATT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58336071	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0047 a0001c0001t0007g0047	1	248	0.0040	21	c.102 others(38): Show c.102+2982_102+2983insATATATATATATATATATTTT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXMP4_chr20_33697758_33725310	33717639	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0116 a0001c0001t0007g0116	1	208	0.0048	21	c.113 others(38): Show c.113+2455_113+2456insTTTTTTTTTTTTTTTTTTTTT	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding	1/3			chr20	TogoVar
PYDC2_chr3_191456163_191466456	191463018	T T	TCTCTCTC others(14): Show TCTCTCTCTTCTCTCTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	367	0.0027	21	c.15 others(32): Show c.1562_*1563insCTCTCTCTTCTCTCTTCTTTC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1563		chr3	TogoVar
PYGB_chr20_25243085_25303012	25247980	G G	GCCCGCCC others(14): Show GCCCGCCCCGCCCTCCCGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 NA19080.hp1 HG02258.hp1 NA19080.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0003 a0001c0004t0002g0275 a0001c0004t0002g0003 a0001c0004t0002g0275	2	370	0.0054	21	c.-19 others(30): Show c.-199_-198insCCCGCCCCGCCCTCCCGAGGC	PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding		104		chr20	TogoVar
PYGB_chr20_25243085_25303012	25248020	G G	GCCCCGCC others(14): Show GCCCCGCCCCGCCCCCCGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	193	0.0052	21	c.-15 others(30): Show c.-159_-158insCCCCGCCCCGCCCCCCGAGGC	PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding		64		chr20	TogoVar
PYGB_chr20_25243085_25303012	25248686	T T	TGAGCCCG others(14): Show TGAGCCCGGGAGCCTGGCGGAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01515.hp2 others(23): Show HG00741.hp1 HG01109.hp1 HG01515.hp2 HG01884.hp2 HG01975.hp2 HG02055.hp1 HG02109.hp1 HG02258.hp1 HG02486.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 NA19043.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0004 a0001c0009 a0001c0021 others(2): Show a0001c0004 a0001c0009 a0001c0021 a0006c0019 a0009c0022	a0001c0004t0002 a0001c0004t0007 a0001c0004t0011 others(4): Show a0001c0004t0002 a0001c0004t0007 a0001c0004t0011 a0001c0009t0005 a0001c0021t0002 a0006c0019t0002 a0009c0022t0002	a0001c0004t0002g0021 a0001c0004t0002g0040 a0001c0004t0002g0041 others(19): Show a0001c0004t0002g0021 a0001c0004t0002g0040 a0001c0004t0002g0041 a0001c0004t0002g0265 a0001c0004t0002g0270 a0001c0004t0002g0273 a0001c0004t0002g0274 a0001c0004t0002g0275 a0001c0004t0002g0276 a0001c0004t0002g0277 a0001c0004t0002g0278 a0001c0004t0002g0280 a0001c0004t0002g0282 a0001c0004t0007g0268 a0001c0004t0007g0269 a0001c0004t0011g0264 a0001c0009t0005g0266 a0001c0009t0005g0271 a0001c0009t0005g0272 a0001c0021t0002g0279 a0006c0019t0002g0281 a0009c0022t0002g0267	26	370	0.0703	21	c.243 others(36): Show c.243+267_243+287dupAGCCCGGGAGCCTGGCGGACG	PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
PYGO1_chr15_55533884_55593345	55548707	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0118 a0001c0001t0018g0119 a0001c0001t0018g0118 a0001c0001t0018g0119	2	23	0.0870	21	c.135 others(36): Show c.135+182_135+202dupTTTTTTTTTTTTTTTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	2/2			chr15	TogoVar
PYGO1_chr15_55533884_55593345	55576760	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG01928.hp1 others(18): Show HG00438.hp2 HG00558.hp2 HG01928.hp1 HG01993.hp1 HG02071.hp2 HG02074.hp1 HG02155.hp1 HG02165.hp1 HG02572.hp1 HG02602.hp1 HG02976.hp1 HG03098.hp1 HG03471.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18968.hp2 NA18973.hp1 NA19011.hp1 NA19064.hp2 NA19079.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0009 a0001c0001 a0001c0003 a0004c0009	a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 others(8): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 a0001c0001t0020 a0001c0001t0028 a0001c0001t0037 a0001c0001t0050 a0001c0001t0051 a0001c0001t0056 a0001c0003t0001 a0004c0009t0055	a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0219 others(17): Show a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0351 a0001c0001t0011g0279 a0001c0001t0015g0009 a0001c0001t0020g0080 a0001c0001t0028g0307 a0001c0001t0037g0384 a0001c0001t0050g0358 a0001c0001t0051g0218 a0001c0001t0056g0129 a0001c0003t0001g0303 a0001c0003t0001g0304 a0004c0009t0055g0347	21	87	0.2414	21	c.49+ others(38): Show c.49+11074_49+11075insTTTTTTTTTTTTTTTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
PYROXD1_chr12_21432655_21476250	21455462	T T	TTATATAT others(14): Show TTATATATATGTATGTATTTTA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0156 a0001c0001t0019g0156	1	182	0.0055	21	c.649 others(36): Show c.649+179_649+180insGTATGTATTTTATATATATAT	PYROXD1	ENSG00000121350.16	transcript	ENST00000240651.14	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
PYY_chr17_43947733_43958940	43958135	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 NA20805.hp2 HG03041.hp2 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0001 a0003c0003t0001g0005 a0002c0002t0001g0001 a0003c0003t0001g0005	2	142	0.0141	21	c.-43 others(32): Show c.-4307_-4287dupTTTTTTTTTTTTTTTTTTTTT	PYY	ENSG00000131096.11	transcript	ENST00000692052.1	protein_coding		4196		chr17	TogoVar
QRICH1_chr3_49024707_49099071	49050248	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA21309.hp1 HG02145.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0216 a0001c0001t0001g0073 a0001c0001t0001g0216	2	60	0.0333	21	c.133 others(40): Show c.1339-3023_1339-3003dupTTTTTTTTTTTTTTTTTTTTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	3/9			chr3	TogoVar
QRICH1_chr3_49024707_49099071	49087818	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	36	0.0278	21	c.-22 others(38): Show c.-22+6073_-22+6093dupTTTTTTTTTTTTTTTTTTTTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	1/9			chr3	TogoVar
QRICH2_chr17_76269049_76313276	76285125	C C	CTGTTGTT others(14): Show CTGTTGTTGTTGTTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02486.hp1 HG02615.hp2 others(14): Show HG01361.hp2 HG02486.hp1 HG02615.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03471.hp2 NA20129.hp2 NA21309.hp1	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0006	a0002c0022 a0004c0006 a0005c0007 others(2): Show a0002c0022 a0004c0006 a0005c0007 a0005c0017 a0006c0008	a0002c0022t0001 a0004c0006t0002 a0005c0007t0003 others(2): Show a0002c0022t0001 a0004c0006t0002 a0005c0007t0003 a0005c0017t0003 a0006c0008t0001	a0002c0022t0001g0307 a0004c0006t0002g0028 a0004c0006t0002g0029 others(14): Show a0002c0022t0001g0307 a0004c0006t0002g0028 a0004c0006t0002g0029 a0004c0006t0002g0030 a0005c0007t0003g0014 a0005c0007t0003g0015 a0005c0007t0003g0016 a0005c0007t0003g0017 a0005c0007t0003g0018 a0005c0007t0003g0019 a0005c0007t0003g0021 a0005c0007t0003g0023 a0005c0007t0003g0024 a0005c0017t0003g0020 a0005c0017t0003g0022 a0006c0008t0001g0217 a0006c0008t0001g0221	17	143	0.1189	21	c.401 others(40): Show c.4011+2046_4011+2066dupACAACAACAACAACAACAACA	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	7/18			chr17	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02027.hp2 HG02040.hp1 others(14): Show HG00558.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp2 HG02155.hp1 HG02273.hp2 HG03130.hp1 HG03453.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 NA18965.hp2 NA19003.hp1 NA19055.hp2 NA19074.hp2 NA19080.hp2 NA19240.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0009 a0001c0001 a0001c0002 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0002 a0008c0009t0001	a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0212 others(14): Show a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0286 a0001c0001t0001g0303 a0001c0001t0001g0328 a0001c0001t0002g0210 a0001c0001t0002g0302 a0001c0001t0003g0326 a0001c0001t0010g0216 a0001c0002t0002g0094 a0008c0009t0001g0282	17	28	0.6071	21	c.213 others(40): Show c.2132-1225_2132-1205dupTTTTTTTTTTTTTTTTTTTTT	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23			chr12	TogoVar
R3HDM4_chr19_891503_918219	892874	A A	AGCCCCGC others(14): Show AGCCCCGCGCCCCGCGCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02717.hp2 HG02895.hp2 others(5): Show HG02148.hp1 HG02717.hp2 HG02895.hp2 HG03471.hp1 NA18906.hp1 NA18939.hp1 NA18945.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0136 a0001c0001t0001g0286 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0136 a0001c0001t0001g0286 a0001c0001t0001g0337 a0001c0001t0002g0238 a0001c0001t0002g0301 a0001c0001t0002g0344	8	399	0.0201	21	c.45 others(32): Show c.4562_*4563insGCGGGGCGCGGGGCGCGGGGC	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding		3628		chr19	TogoVar

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